nsv4716588
- 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:4,134,950
- Description:GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226) AND 10q11.22q11.23 microdeletion including CHAT and SLC18A3
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12090 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 11215 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716588 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 50,066,466 |
| nsv4716588 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,964,973 | 51,826,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16252224 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001255694.2, VCV000977791.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252224 | Remapped | Pass | NC_000010.11:g.(?_ 45931517)_(5006646 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 50,066,466 |
| nssv16252224 | Submitted genomic | NC_000010.10:g.(?_ 46964973)_(5182622 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,964,973 | 51,826,226 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16252224 | GRCh37: NC_000010.10:g.(?_46964973)_(51826226_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001255694.2, VCV000977791.2 |