nsv3906823
- 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:3,310,004
- Description:GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)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: 11183 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 11509 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 3315 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906823 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 12,724,785 | 16,034,788 |
| nsv3906823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,784,752 | 16,361,283 |
| nsv3906823 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 12,707,339 | 16,233,870 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145869 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137720.4, VCV000148652.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145869 | Submitted genomic | NC_000001.11:g.(?_ 12724785)_(1603478 8_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 12,724,785 | 16,034,788 |
| nssv15145869 | Submitted genomic | NC_000001.10:g.(?_ 12784752)_(1636128 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,784,752 | 16,361,283 |
| nssv15145869 | Submitted genomic | NC_000001.9:g.(?_1 2707339)_(16233870 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 12,707,339 | 16,233,870 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145869 | GRCh37: NC_000001.10:g.(?_12784752)_(16361283_?)del, GRCh38: NC_000001.11:g.(?_12724785)_(16034788_?)del, NCBI36: NC_000001.9:g.(?_12707339)_(16233870_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137720.4, VCV000148652.2 | 1 |