nsv4367952
- 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:34,274
- 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: 430 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367952 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nsv4367952 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15634919 | copy number loss | 12-4425-001 | SNP array | Genotyping | 15 |
nssv15634963 | copy number loss | 12-4425-003 | SNP array | Genotyping | 20 |
nssv15634983 | copy number loss | 12-4425-004 | SNP array | Genotyping | 22 |
nssv15635025 | copy number loss | 12-4425-007 | SNP array | Genotyping | 22 |
nssv15635461 | copy number loss | 12-4425-005 | SNP array | Genotyping | 24 |
nssv15641717 | copy number loss | 14-0271-003 | SNP array | Genotyping | 18 |
nssv15698981 | copy number loss | 201189 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15634919 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15634963 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15634983 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15635025 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15635461 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15641717 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15698981 | Remapped | Perfect | NC_000018.10:g.(?_ 4459854)_(4494127_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,459,854 | 4,494,127 |
nssv15634919 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15634963 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15634983 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15635025 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15635461 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15641717 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 | ||
nssv15698981 | Submitted genomic | NC_000018.9:g.(?_4 459854)_(4494127_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,459,854 | 4,494,127 |