nsv3918611
- 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:8,481,859
- Description:GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)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: 22217 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 21422 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 6506 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 |
|---|---|---|---|---|---|---|---|
| nsv3918611 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 42,395,201 | 50,877,059 |
| nsv3918611 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 42,890,649 | 52,636,819 |
| nsv3918611 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 42,210,655 | 52,306,825 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146649 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134846.5, VCV000145479.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146649 | Submitted genomic | NC_000010.11:g.(?_ 42395201)_(5087705 9_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 42,395,201 | 50,877,059 |
| nssv15146649 | Submitted genomic | NC_000010.10:g.(?_ 42890649)_(5263681 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 42,890,649 | 52,636,819 |
| nssv15146649 | Submitted genomic | NC_000010.9:g.(?_4 2210655)_(52306825 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 42,210,655 | 52,306,825 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146649 | GRCh37: NC_000010.10:g.(?_42890649)_(52636819_?)dup, GRCh38: NC_000010.11:g.(?_42395201)_(50877059_?)dup, NCBI36: NC_000010.9:g.(?_42210655)_(52306825_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134846.5, VCV000145479.2 | 3 |