nsv3912487
- 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:5,128,423
- Description:GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)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: 13016 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 13017 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 3479 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 92,626,680 | 97,755,102 |
| nsv3912487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 94,386,437 | 99,514,859 |
| nsv3912487 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 94,376,417 | 99,504,849 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133599 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052564.6, VCV000058776.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133599 | Submitted genomic | NC_000010.11:g.(?_ 92626680)_(9775510 2_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 92,626,680 | 97,755,102 |
| nssv15133599 | Submitted genomic | NC_000010.10:g.(?_ 94386437)_(9951485 9_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 94,386,437 | 99,514,859 |
| nssv15133599 | Submitted genomic | NC_000010.9:g.(?_9 4376417)_(99504849 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 94,376,417 | 99,504,849 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133599 | GRCh37: NC_000010.10:g.(?_94386437)_(99514859_?)del, GRCh38: NC_000010.11:g.(?_92626680)_(97755102_?)del, NCBI36: NC_000010.9:g.(?_94376417)_(99504849_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052564.6, VCV000058776.1 | 1 |