nsv3924696
- 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:1,686,390
- Description:GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)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: 4397 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 4398 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 945 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924696 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 102,243,341 | 103,929,730 |
| nsv3924696 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 104,003,098 | 105,689,488 |
| nsv3924696 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 103,993,088 | 105,679,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146427 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052568.4, VCV000058780.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146427 | Submitted genomic | NC_000010.11:g.(?_ 102243341)_(103929 730_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 102,243,341 | 103,929,730 |
| nssv15146427 | Submitted genomic | NC_000010.10:g.(?_ 104003098)_(105689 488_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 104,003,098 | 105,689,488 |
| nssv15146427 | Submitted genomic | NC_000010.9:g.(?_1 03993088)_(1056794 78_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 103,993,088 | 105,679,478 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146427 | GRCh37: NC_000010.10:g.(?_104003098)_(105689488_?)del, GRCh38: NC_000010.11:g.(?_102243341)_(103929730_?)del, NCBI36: NC_000010.9:g.(?_103993088)_(105679478_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052568.4, VCV000058780.1 | 1 |