nsv3922768
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,648,851
- Description:GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 35579 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 35649 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 9709 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922768 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 64,761,248 | 78,410,098 |
| nsv3922768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 64,746,924 | 78,459,248 |
| nsv3922768 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 64,721,964 | 78,541,938 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120308 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051512.4, VCV000057772.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120308 | Submitted genomic | NC_000003.12:g.(?_ 64761248)_(7841009 8_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 64,761,248 | 78,410,098 |
| nssv15120308 | Submitted genomic | NC_000003.11:g.(?_ 64746924)_(7845924 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 64,746,924 | 78,459,248 |
| nssv15120308 | Submitted genomic | NC_000003.10:g.(?_ 64721964)_(7854193 8_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 64,721,964 | 78,541,938 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120308 | GRCh37: NC_000003.11:g.(?_64746924)_(78459248_?)del, GRCh38: NC_000003.12:g.(?_64761248)_(78410098_?)del, NCBI36: NC_000003.10:g.(?_64721964)_(78541938_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051512.4, VCV000057772.1 | 1 |