nsv3923995
- 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:6,818,994
- Description:GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)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: 28115 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 27774 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 6991 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923995 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 126,794,646 | 133,613,639 |
| nsv3923995 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 128,483,215 | 135,427,143 |
| nsv3923995 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 128,473,205 | 135,277,133 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148254 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143615.6, VCV000155548.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148254 | Submitted genomic | NC_000010.11:g.(?_ 126794646)_(133613 639_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 126,794,646 | 133,613,639 |
| nssv15148254 | Submitted genomic | NC_000010.10:g.(?_ 128483215)_(135427 143_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 128,483,215 | 135,427,143 |
| nssv15148254 | Submitted genomic | NC_000010.9:g.(?_1 28473205)_(1352771 33_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 128,473,205 | 135,277,133 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148254 | GRCh37: NC_000010.10:g.(?_128483215)_(135427143_?)del, GRCh38: NC_000010.11:g.(?_126794646)_(133613639_?)del, NCBI36: NC_000010.9:g.(?_128473205)_(135277133_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143615.6, VCV000155548.2 | 1 |