nsv3913649
- 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:43,993,733
- Description:GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)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: 116307 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 116326 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 31790 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 |
|---|---|---|---|---|---|---|---|
| nsv3913649 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 41,143,820 | 85,137,552 |
| nsv3913649 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 41,717,956 | 85,711,687 |
| nsv3913649 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 40,615,956 | 84,609,688 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161071 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136526.5, VCV000147318.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161071 | Submitted genomic | NC_000013.11:g.(?_ 41143820)_(8513755 2_?)del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 41,143,820 | 85,137,552 |
| nssv15161071 | Submitted genomic | NC_000013.10:g.(?_ 41717956)_(8571168 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 41,717,956 | 85,711,687 |
| nssv15161071 | Submitted genomic | NC_000013.9:g.(?_4 0615956)_(84609688 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 40,615,956 | 84,609,688 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161071 | GRCh37: NC_000013.10:g.(?_41717956)_(85711687_?)del, GRCh38: NC_000013.11:g.(?_41143820)_(85137552_?)del, NCBI36: NC_000013.9:g.(?_40615956)_(84609688_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136526.5, VCV000147318.2 | 1 |