nsv3917822
- 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:11,893,521
- Description:GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)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: 33951 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 33954 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 8684 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917822 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 63,402,579 | 75,296,099 |
| nsv3917822 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 65,162,339 | 77,055,857 |
| nsv3917822 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 64,832,345 | 76,725,863 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134816 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136658.4, VCV000147477.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134816 | Submitted genomic | NC_000010.11:g.(?_ 63402579)_(7529609 9_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 63,402,579 | 75,296,099 |
| nssv15134816 | Submitted genomic | NC_000010.10:g.(?_ 65162339)_(7705585 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 65,162,339 | 77,055,857 |
| nssv15134816 | Submitted genomic | NC_000010.9:g.(?_6 4832345)_(76725863 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 64,832,345 | 76,725,863 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134816 | GRCh37: NC_000010.10:g.(?_65162339)_(77055857_?)del, GRCh38: NC_000010.11:g.(?_63402579)_(75296099_?)del, NCBI36: NC_000010.9:g.(?_64832345)_(76725863_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136658.4, VCV000147477.2 | 1 |