nsv4380093
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,929
- 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: 443 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 63 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4380093 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nsv4380093 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15618699 | copy number loss | 1-0171-002 | SNP array | Genotyping | 19 |
nssv15618754 | copy number loss | 1-0171-003 | SNP array | Genotyping | 23 |
nssv15620601 | copy number loss | 1-0974-003 | SNP array | Genotyping | 19 |
nssv15620663 | copy number loss | 1-0976-004 | SNP array | Genotyping | 21 |
nssv15622507 | copy number loss | 1-0219-002 | SNP array | Genotyping | 17 |
nssv15622578 | copy number loss | 1-0244-005 | SNP array | Genotyping | 26 |
nssv15637718 | copy number loss | 14-0154-003 | SNP array | Genotyping | 13 |
nssv15638006 | copy number loss | 14-0062-004 | SNP array | Genotyping | 19 |
nssv15644194 | copy number loss | 16-1003-001 | SNP array | Genotyping | 22 |
nssv15644730 | copy number loss | 16-1001-002 | SNP array | Genotyping | 27 |
nssv15645316 | copy number loss | 2-0129-004 | SNP array | Genotyping | 21 |
nssv15646457 | copy number loss | 2-1186-004 | SNP array | Genotyping | 28 |
nssv15648702 | copy number loss | 2-1283-001 | SNP array | Genotyping | 24 |
nssv15648761 | copy number loss | 2-1283-004 | SNP array | Genotyping | 26 |
nssv15649781 | copy number loss | 2-1352-003 | SNP array | Genotyping | 26 |
nssv15649810 | copy number loss | 2-1355-002 | SNP array | Genotyping | 13 |
nssv15649823 | copy number loss | 2-1355-003 | SNP array | Genotyping | 14 |
nssv15649850 | copy number loss | 2-1355-004 | SNP array | Genotyping | 27 |
nssv15651410 | copy number loss | 2-1430-005 | SNP array | Genotyping | 16 |
nssv15658085 | copy number loss | 3-0607-001 | SNP array | Genotyping | 17 |
nssv15668486 | copy number loss | 7-0223-003 | SNP array | Genotyping | 23 |
nssv15670911 | copy number loss | 7-0285-003 | SNP array | Genotyping | 17 |
nssv15677142 | copy number loss | 219364 | SNP array | Genotyping | 22 |
nssv15678508 | copy number loss | 206763 | SNP array | Genotyping | 19 |
nssv15678640 | copy number loss | 164265 | SNP array | Genotyping | 20 |
nssv15679138 | copy number loss | 182135 | SNP array | Genotyping | 19 |
nssv15683887 | copy number loss | OCD136-896482 | SNP array | Genotyping | 16 |
nssv15684388 | copy number loss | OCD114-B_1684 | SNP array | Genotyping | 21 |
nssv15688791 | copy number loss | OCD47-S_0625-5986-1 | SNP array | Genotyping | 15 |
nssv15691430 | copy number loss | OCD42-S_0625-2765-2 | SNP array | Genotyping | 25 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15618699 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15618754 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15620601 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15620663 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15622507 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15622578 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15637718 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15638006 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15644194 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15644730 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15645316 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15646457 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15648702 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15648761 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15649781 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15649810 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15649823 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15649850 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15651410 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15658085 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15668486 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15670911 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15677142 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15678508 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15678640 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15679138 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15683887 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15684388 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15688791 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15691430 | Remapped | Perfect | NC_000007.14:g.(?_ 143123700)_(143194 628_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,123,700 | 143,194,628 |
nssv15618699 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15618754 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15620601 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15620663 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15622507 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15622578 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15637718 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15638006 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15644194 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15644730 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15645316 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15646457 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15648702 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15648761 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15649781 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15649810 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15649823 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15649850 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15651410 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15658085 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15668486 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15670911 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15677142 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15678508 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15678640 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15679138 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15683887 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15684388 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15688791 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 | ||
nssv15691430 | Submitted genomic | NC_000007.13:g.(?_ 142820793)_(142891 721_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,820,793 | 142,891,721 |