nsv3917536
- 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:812,341
- Description:GRCh38/hg38 11q13.2(chr11:66885910-67698250)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: 2515 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2515 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 570 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917536 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 66,885,910 | 67,698,250 |
| nsv3917536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 66,653,381 | 67,465,721 |
| nsv3917536 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 66,409,957 | 67,222,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147124 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052682.4, VCV000058892.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147124 | Submitted genomic | NC_000011.10:g.(?_ 66885910)_(6769825 0_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 66,885,910 | 67,698,250 |
| nssv15147124 | Submitted genomic | NC_000011.9:g.(?_6 6653381)_(67465721 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 66,653,381 | 67,465,721 |
| nssv15147124 | Submitted genomic | NC_000011.8:g.(?_6 6409957)_(67222297 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 66,409,957 | 67,222,297 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147124 | GRCh37: NC_000011.9:g.(?_66653381)_(67465721_?)del, GRCh38: NC_000011.10:g.(?_66885910)_(67698250_?)del, NCBI36: NC_000011.8:g.(?_66409957)_(67222297_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052682.4, VCV000058892.1 | 1 |