nsv3924313
- 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:334,827
- Description:GRCh38/hg38 10q21.1(chr10:58148435-58483261)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: 752 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924313 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 58,148,435 | 58,483,261 |
| nsv3924313 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 59,908,196 | 60,243,021 |
| nsv3924313 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 59,578,202 | 59,913,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138024 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000139707.4, VCV000150914.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138024 | Submitted genomic | NC_000010.11:g.(?_ 58148435)_(5848326 1_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 58,148,435 | 58,483,261 |
| nssv15138024 | Submitted genomic | NC_000010.10:g.(?_ 59908196)_(6024302 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 59,908,196 | 60,243,021 |
| nssv15138024 | Submitted genomic | NC_000010.9:g.(?_5 9578202)_(59913027 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 59,578,202 | 59,913,027 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138024 | GRCh37: NC_000010.10:g.(?_59908196)_(60243021_?)del, GRCh38: NC_000010.11:g.(?_58148435)_(58483261_?)del, NCBI36: NC_000010.9:g.(?_59578202)_(59913027_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000139707.4, VCV000150914.2 | 1 |