nsv3911437
- 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:8,175,579
- Description:GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)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: 20047 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 20048 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 5200 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911437 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 93,181,201 | 101,356,779 |
| nsv3911437 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 94,940,958 | 103,116,536 |
| nsv3911437 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 94,930,948 | 103,106,526 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147105 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052565.5, VCV000058777.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147105 | Submitted genomic | NC_000010.11:g.(?_ 93181201)_(1013567 79_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 93,181,201 | 101,356,779 |
| nssv15147105 | Submitted genomic | NC_000010.10:g.(?_ 94940958)_(1031165 36_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 94,940,958 | 103,116,536 |
| nssv15147105 | Submitted genomic | NC_000010.9:g.(?_9 4930948)_(10310652 6_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 94,930,948 | 103,106,526 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147105 | GRCh37: NC_000010.10:g.(?_94940958)_(103116536_?)del, GRCh38: NC_000010.11:g.(?_93181201)_(101356779_?)del, NCBI36: NC_000010.9:g.(?_94930948)_(103106526_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052565.5, VCV000058777.1 | 1 |