nsv3918147
- 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:4,453,225
- Description:GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)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: 10559 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 10559 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2459 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918147 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 32,322,382 | 36,775,606 |
| nsv3918147 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 32,363,874 | 36,817,097 |
| nsv3918147 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 32,338,878 | 36,792,101 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119823 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051509.4, VCV000057769.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119823 | Submitted genomic | NC_000003.12:g.(?_ 32322382)_(3677560 6_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 32,322,382 | 36,775,606 |
| nssv15119823 | Submitted genomic | NC_000003.11:g.(?_ 32363874)_(3681709 7_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 32,363,874 | 36,817,097 |
| nssv15119823 | Submitted genomic | NC_000003.10:g.(?_ 32338878)_(3679210 1_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 32,338,878 | 36,792,101 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119823 | GRCh37: NC_000003.11:g.(?_32363874)_(36817097_?)del, GRCh38: NC_000003.12:g.(?_32322382)_(36775606_?)del, NCBI36: NC_000003.10:g.(?_32338878)_(36792101_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051509.4, VCV000057769.1 | 1 |