nsv4456012
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,187,673
- Description:GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3078 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 3070 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456012 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 138,530,111 | 139,717,783 |
| nsv4456012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 137,865,800 | 139,097,368 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774611 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846144.2, VCV000685436.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774611 | Remapped | Good | NC_000005.10:g.(?_ 138530111)_(139717 783_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 138,530,111 | 139,717,783 |
| nssv15774611 | Submitted genomic | NC_000005.9:g.(?_1 37865800)_(1390973 68_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 137,865,800 | 139,097,368 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774611 | GRCh37: NC_000005.9:g.(?_137865800)_(139097368_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846144.2, VCV000685436.2 | 1 |