nsv4367524
- 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:133,335
- 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: 1532 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1532 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367524 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nsv4367524 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15623859 | copy number loss | 1-0248-003 | SNP array | Genotyping | 22 |
nssv15652512 | copy number loss | 2-1526-002 | SNP array | Genotyping | 17 |
nssv15658735 | copy number loss | 3-0602-000 | SNP array | Genotyping | 28 |
nssv15679514 | copy number loss | 237800S | SNP array | Genotyping | 16 |
nssv15680186 | copy number loss | 222683 | SNP array | Genotyping | 21 |
nssv15681025 | copy number loss | 181228 | SNP array | Genotyping | 21 |
nssv15702782 | copy number loss | 212968 | SNP array | Genotyping | 25 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15623859 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15652512 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15658735 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15679514 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15680186 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15681025 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15702782 | Remapped | Perfect | NC_000005.10:g.(?_ 17511907)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,511,907 | 17,645,241 |
nssv15623859 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15652512 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15658735 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15679514 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15680186 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15681025 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 | ||
nssv15702782 | Submitted genomic | NC_000005.9:g.(?_1 7512016)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,512,016 | 17,645,350 |