nsv3920369
- 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:306,014
- Description:GRCh38/hg38 10p13(chr10:14844417-15150430)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: 1000 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1000 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 255 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 |
|---|---|---|---|---|---|---|---|
| nsv3920369 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 14,844,417 | 15,150,430 |
| nsv3920369 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 14,886,416 | 15,192,429 |
| nsv3920369 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 14,926,422 | 15,232,435 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161052 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053515.5, VCV000059663.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161052 | Submitted genomic | NC_000010.11:g.(?_ 14844417)_(1515043 0_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 14,844,417 | 15,150,430 |
| nssv15161052 | Submitted genomic | NC_000010.10:g.(?_ 14886416)_(1519242 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 14,886,416 | 15,192,429 |
| nssv15161052 | Submitted genomic | NC_000010.9:g.(?_1 4926422)_(15232435 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 14,926,422 | 15,232,435 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161052 | GRCh37: NC_000010.10:g.(?_14886416)_(15192429_?)dup, GRCh38: NC_000010.11:g.(?_14844417)_(15150430_?)dup, NCBI36: NC_000010.9:g.(?_14926422)_(15232435_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000053515.5, VCV000059663.1 | 3 |