nsv3912275
- 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:137,706
- Description:GRCh38/hg38 10q26.3(chr10:133421283-133558988)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: 1934 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 1934 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 755 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912275 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 133,421,283 | 133,558,988 |
| nsv3912275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,234,787 | 135,372,492 |
| nsv3912275 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 135,084,777 | 135,222,482 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133764 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000135908.4, VCV000146652.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133764 | Submitted genomic | NC_000010.11:g.(?_ 133421283)_(133558 988_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 133,421,283 | 133,558,988 |
| nssv15133764 | Submitted genomic | NC_000010.10:g.(?_ 135234787)_(135372 492_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,234,787 | 135,372,492 |
| nssv15133764 | Submitted genomic | NC_000010.9:g.(?_1 35084777)_(1352224 82_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 135,084,777 | 135,222,482 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133764 | GRCh37: NC_000010.10:g.(?_135234787)_(135372492_?)del, GRCh38: NC_000010.11:g.(?_133421283)_(133558988_?)del, NCBI36: NC_000010.9:g.(?_135084777)_(135222482_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000135908.4, VCV000146652.2 | 1 |