nsv3921517
- 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:402,194
- Description:GRCh38/hg38 10q22.1(chr10:71211967-71614160)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: 1000 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1000 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921517 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 71,211,967 | 71,614,160 |
| nsv3921517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 72,971,724 | 73,373,917 |
| nsv3921517 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 72,641,730 | 73,043,923 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139283 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143420.5, VCV000155353.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139283 | Submitted genomic | NC_000010.11:g.(?_ 71211967)_(7161416 0_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 71,211,967 | 71,614,160 |
| nssv15139283 | Submitted genomic | NC_000010.10:g.(?_ 72971724)_(7337391 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 72,971,724 | 73,373,917 |
| nssv15139283 | Submitted genomic | NC_000010.9:g.(?_7 2641730)_(73043923 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 72,641,730 | 73,043,923 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139283 | GRCh37: NC_000010.10:g.(?_72971724)_(73373917_?)del, GRCh38: NC_000010.11:g.(?_71211967)_(71614160_?)del, NCBI36: NC_000010.9:g.(?_72641730)_(73043923_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000143420.5, VCV000155353.2 | 1 |