nsv3924406
- 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:19,114,787
- Description:GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 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: 63084 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 62462 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 16147 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924406 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 69,261 | 19,184,047 |
| nsv3924406 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 224,406 | 19,472,976 |
| nsv3924406 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 105,201 | 19,512,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161288 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053507.7, VCV000059657.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161288 | Submitted genomic | NC_000010.11:g.(?_ 69261)_(19184047_? )dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 69,261 | 19,184,047 |
| nssv15161288 | Submitted genomic | NC_000010.10:g.(?_ 224406)_(19472976_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 224,406 | 19,472,976 |
| nssv15161288 | Submitted genomic | NC_000010.9:g.(?_1 05201)_(19512982_? )dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 105,201 | 19,512,982 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161288 | GRCh37: NC_000010.10:g.(?_224406)_(19472976_?)dup, GRCh38: NC_000010.11:g.(?_69261)_(19184047_?)dup, NCBI36: NC_000010.9:g.(?_105201)_(19512982_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053507.7, VCV000059657.1 | 3 |