nsv4372628
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,842
- 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: 527 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 77 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4372628 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nsv4372628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15617422 | copy number loss | 1-0844-003 | SNP array | Genotyping | 21 |
nssv15637533 | copy number loss | 14-0050-002 | SNP array | Genotyping | 20 |
nssv15640440 | copy number loss | 14-0286-003 | SNP array | Genotyping | 22 |
nssv15654967 | copy number loss | 2-1632-002 | SNP array | Genotyping | 20 |
nssv15660429 | copy number loss | 4-0075-003 | SNP array | Genotyping | 24 |
nssv15689898 | copy number gain | OCD1158-S_HAM503 | SNP array | Genotyping | 22 |
nssv15693863 | copy number gain | OCD70-896293 | SNP array | Genotyping | 15 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15617422 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15637533 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15640440 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15654967 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15660429 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15689898 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15693863 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754549 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,497 |
nssv15617422 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15637533 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15640440 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15654967 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15660429 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15689898 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 | ||
nssv15693863 | Submitted genomic | NC_000002.11:g.(?_ 98063371)_(9816196 0_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,063,371 | 98,161,960 |