nsv4366036
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:39
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,094
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 957 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 958 SVs from 85 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4366036 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nsv4366036 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15612834 | copy number loss | 1-0675-001 | SNP array | Genotyping | 27 |
nssv15614384 | copy number loss | 1-0761-003 | SNP array | Genotyping | 20 |
nssv15614717 | copy number loss | 1-0740-003 | SNP array | Genotyping | 20 |
nssv15614892 | copy number loss | 1-0704-005 | SNP array | Genotyping | 21 |
nssv15622036 | copy number loss | 1-0208-002 | SNP array | Genotyping | 22 |
nssv15623760 | copy number loss | 1-0236-005 | SNP array | Genotyping | 25 |
nssv15625829 | copy number loss | 1-0376-003 | SNP array | Genotyping | 24 |
nssv15626320 | copy number loss | 1-0449-001 | SNP array | Genotyping | 20 |
nssv15630390 | copy number loss | 1-0610-003 | SNP array | Genotyping | 21 |
nssv15631034 | copy number loss | 1-0595-001 | SNP array | Genotyping | 31 |
nssv15633059 | copy number loss | 10-1104-003 | SNP array | Genotyping | 23 |
nssv15637260 | copy number loss | 12-8115-003 | SNP array | Genotyping | 19 |
nssv15654175 | copy number loss | 2-1591-002 | SNP array | Genotyping | 26 |
nssv15657475 | copy number loss | 4-0027-002 | SNP array | Genotyping | 22 |
nssv15657904 | copy number loss | 3-0436-000 | SNP array | Genotyping | 19 |
nssv15658867 | copy number loss | 3-0630-000 | SNP array | Genotyping | 20 |
nssv15659121 | copy number loss | 4-0065-001 | SNP array | Genotyping | 19 |
nssv15659640 | copy number loss | 4-0032-001 | SNP array | Genotyping | 39 |
nssv15663276 | copy number loss | 4-0062-002 | SNP array | Genotyping | 36 |
nssv15663318 | copy number loss | 4-0062-004 | SNP array | Genotyping | 20 |
nssv15675394 | copy number loss | 234386S | SNP array | Genotyping | 20 |
nssv15676377 | copy number loss | 209352 | SNP array | Genotyping | 33 |
nssv15678331 | copy number loss | 191455 | SNP array | Genotyping | 23 |
nssv15682531 | copy number loss | OCD1148-8961123 | SNP array | Genotyping | 27 |
nssv15683184 | copy number loss | OCD1000-S_896253 | SNP array | Genotyping | 27 |
nssv15683299 | copy number loss | OCD101-1579 | SNP array | Genotyping | 20 |
nssv15683694 | copy number loss | OCD139-0625-4194-1 | SNP array | Genotyping | 28 |
nssv15683726 | copy number loss | OCD139-0625-4194-2 | SNP array | Genotyping | 30 |
nssv15684714 | copy number loss | OCD154-896621 | SNP array | Genotyping | 25 |
nssv15684735 | copy number loss | OCD154-896623 | SNP array | Genotyping | 28 |
nssv15686718 | copy number loss | OCD24-S_896442 | SNP array | Genotyping | 17 |
nssv15692101 | copy number loss | OCD61-PC-1273 | SNP array | Genotyping | 26 |
nssv15694180 | copy number loss | OCD81-896773 | SNP array | Genotyping | 28 |
nssv15695588 | copy number loss | 209030 | SNP array | Genotyping | 19 |
nssv15696521 | copy number gain | 159785 | SNP array | Genotyping | 19 |
nssv15696840 | copy number loss | 218093 | SNP array | Genotyping | 20 |
nssv15698030 | copy number loss | 200039 | SNP array | Genotyping | 25 |
nssv15699849 | copy number loss | 170722 | SNP array | Genotyping | 24 |
nssv15702225 | copy number loss | 199156 | SNP array | Genotyping | 15 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15612834 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15614384 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15614717 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15614892 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15622036 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15623760 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15625829 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15626320 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15630390 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15631034 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15633059 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15637260 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15654175 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15657475 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15657904 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15658867 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15659121 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15659640 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15663276 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15663318 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15675394 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15676377 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15678331 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15682531 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15683184 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15683299 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15683694 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15683726 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15684714 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15684735 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15686718 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15692101 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15694180 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15695588 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15696521 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15696840 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15698030 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15699849 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15702225 | Remapped | Perfect | NC_000012.12:g.(?_ 11068228)_(1109932 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,068,228 | 11,099,321 |
nssv15612834 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15614384 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15614717 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15614892 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15622036 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15623760 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15625829 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15626320 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15630390 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15631034 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15633059 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15637260 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15654175 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15657475 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15657904 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15658867 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15659121 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15659640 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15663276 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15663318 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15675394 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15676377 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15678331 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15682531 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15683184 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15683299 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15683694 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15683726 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15684714 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15684735 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15686718 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15692101 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15694180 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15695588 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15696521 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15696840 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15698030 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15699849 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 | ||
nssv15702225 | Submitted genomic | NC_000012.11:g.(?_ 11220827)_(1125192 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,220,827 | 11,251,920 |