nsv3905232
- 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:12,649,243
- Description:GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)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: 41679 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 41582 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11392 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905232 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 32,241 | 12,681,483 |
| nsv3905232 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 73,914 | 12,722,982 |
| nsv3905232 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 48,914 | 12,697,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145888 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138143.6, VCV000149085.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145888 | Submitted genomic | NC_000003.12:g.(?_ 32241)_(12681483_? )del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 32,241 | 12,681,483 |
| nssv15145888 | Submitted genomic | NC_000003.11:g.(?_ 73914)_(12722982_? )del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 73,914 | 12,722,982 |
| nssv15145888 | Submitted genomic | NC_000003.10:g.(?_ 48914)_(12697982_? )del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 48,914 | 12,697,982 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145888 | GRCh37: NC_000003.11:g.(?_73914)_(12722982_?)del, GRCh38: NC_000003.12:g.(?_32241)_(12681483_?)del, NCBI36: NC_000003.10:g.(?_48914)_(12697982_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000138143.6, VCV000149085.2 | 1 |