nsv4377307
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,512
- 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: 1033 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1034 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377307 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nsv4377307 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612362 | copy number gain | 1-0665-002 | SNP array | Genotyping | 13 |
| nssv15616216 | copy number gain | 1-0793-003 | SNP array | Genotyping | 30 |
| nssv15618813 | copy number gain | 1-0889-003 | SNP array | Genotyping | 18 |
| nssv15619414 | copy number gain | 1-0921-003 | SNP array | Genotyping | 27 |
| nssv15622218 | copy number gain | 1-0025-004 | SNP array | Genotyping | 30 |
| nssv15624883 | copy number gain | 1-0291-005 | SNP array | Genotyping | 22 |
| nssv15625781 | copy number gain | 1-0375-001 | SNP array | Genotyping | 19 |
| nssv15629473 | copy number gain | 1-0560-003 | SNP array | Genotyping | 21 |
| nssv15634814 | copy number gain | 12-8161-004 | SNP array | Genotyping | 17 |
| nssv15636845 | copy number gain | 13-0161-003 | SNP array | Genotyping | 12 |
| nssv15637490 | copy number gain | 14-0044-004 | SNP array | Genotyping | 24 |
| nssv15639426 | copy number gain | 14-0187-002 | SNP array | Genotyping | 16 |
| nssv15639839 | copy number gain | 14-0227-003 | SNP array | Genotyping | 28 |
| nssv15639885 | copy number gain | 14-0250-004 | SNP array | Genotyping | 30 |
| nssv15640263 | copy number gain | 14-0144-001 | SNP array | Genotyping | 21 |
| nssv15642850 | copy number gain | 15-1111-001 | SNP array | Genotyping | 18 |
| nssv15644336 | copy number gain | 16-1006-002 | SNP array | Genotyping | 17 |
| nssv15651961 | copy number gain | 2-1502-001 | SNP array | Genotyping | 28 |
| nssv15658698 | copy number gain | 3-0547-000 | SNP array | Genotyping | 24 |
| nssv15670086 | copy number gain | 7-0256-003 | SNP array | Genotyping | 22 |
| nssv15676545 | copy number gain | 235978S | SNP array | Genotyping | 29 |
| nssv15680657 | copy number gain | 214101 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612362 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15616216 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15618813 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15619414 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15622218 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15624883 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15625781 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15629473 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15634814 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15636845 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15637490 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15639426 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15639839 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15639885 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15640263 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15642850 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15644336 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15651961 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15658698 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15670086 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15676545 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15680657 | Remapped | Perfect | NC_000012.12:g.(?_ 11062595)_(1109910 6_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,595 | 11,099,106 |
| nssv15612362 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15616216 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15618813 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15619414 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15622218 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15624883 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15625781 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15629473 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15634814 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15636845 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15637490 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15639426 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15639839 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15639885 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15640263 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15642850 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15644336 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15651961 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15658698 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15670086 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15676545 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 | ||
| nssv15680657 | Submitted genomic | NC_000012.11:g.(?_ 11215194)_(1125170 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,194 | 11,251,705 |