nsv3910545
- 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:2,891,747
- Description:GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)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: 6458 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 6458 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1238 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910545 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 72,720,628 | 75,612,374 |
| nsv3910545 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 74,480,386 | 77,372,132 |
| nsv3910545 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 74,150,392 | 77,042,138 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120647 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052531.4, VCV000058745.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120647 | Submitted genomic | NC_000010.11:g.(?_ 72720628)_(7561237 4_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 72,720,628 | 75,612,374 |
| nssv15120647 | Submitted genomic | NC_000010.10:g.(?_ 74480386)_(7737213 2_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 74,480,386 | 77,372,132 |
| nssv15120647 | Submitted genomic | NC_000010.9:g.(?_7 4150392)_(77042138 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 74,150,392 | 77,042,138 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120647 | GRCh37: NC_000010.10:g.(?_74480386)_(77372132_?)del, GRCh38: NC_000010.11:g.(?_72720628)_(75612374_?)del, NCBI36: NC_000010.9:g.(?_74150392)_(77042138_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052531.4, VCV000058745.1 | 1 |