nsv3911634
- 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:13,644,133
- Description:GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)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: 37119 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 37119 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 10004 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911634 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 19,088,161 | 32,732,293 |
| nsv3911634 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 19,377,090 | 33,021,221 |
| nsv3911634 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 19,417,096 | 33,061,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136587 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000139427.4, VCV000150600.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136587 | Submitted genomic | NC_000010.11:g.(?_ 19088161)_(3273229 3_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 19,088,161 | 32,732,293 |
| nssv15136587 | Submitted genomic | NC_000010.10:g.(?_ 19377090)_(3302122 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 19,377,090 | 33,021,221 |
| nssv15136587 | Submitted genomic | NC_000010.9:g.(?_1 9417096)_(33061227 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 19,417,096 | 33,061,227 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136587 | GRCh37: NC_000010.10:g.(?_19377090)_(33021221_?)dup, GRCh38: NC_000010.11:g.(?_19088161)_(32732293_?)dup, NCBI36: NC_000010.9:g.(?_19417096)_(33061227_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000139427.4, VCV000150600.2 | 3 |