nsv3922909
- 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:5,400,886
- Description:GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)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: 13303 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 13303 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 3659 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922909 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 50,462,100 | 55,862,985 |
| nsv3922909 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 49,757,934 | 55,158,813 |
| nsv3922909 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 49,793,691 | 55,194,570 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121246 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053451.5, VCV000059608.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121246 | Submitted genomic | NC_000005.10:g.(?_ 50462100)_(5586298 5_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 50,462,100 | 55,862,985 |
| nssv15121246 | Submitted genomic | NC_000005.9:g.(?_4 9757934)_(55158813 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 49,757,934 | 55,158,813 |
| nssv15121246 | Submitted genomic | NC_000005.8:g.(?_4 9793691)_(55194570 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 49,793,691 | 55,194,570 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121246 | GRCh37: NC_000005.9:g.(?_49757934)_(55158813_?)del, GRCh38: NC_000005.10:g.(?_50462100)_(55862985_?)del, NCBI36: NC_000005.8:g.(?_49793691)_(55194570_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053451.5, VCV000059608.1 | 1 |