nsv3912559
- 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:696,574
- Description:GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 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: 2297 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2297 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912559 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 62,249,520 | 62,946,093 |
| nsv3912559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 62,016,992 | 62,713,565 |
| nsv3912559 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 61,773,568 | 62,470,141 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145902 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138411.4, VCV000149385.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145902 | Submitted genomic | NC_000011.10:g.(?_ 62249520)_(6294609 3_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 62,249,520 | 62,946,093 |
| nssv15145902 | Submitted genomic | NC_000011.9:g.(?_6 2016992)_(62713565 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 62,016,992 | 62,713,565 |
| nssv15145902 | Submitted genomic | NC_000011.8:g.(?_6 1773568)_(62470141 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 61,773,568 | 62,470,141 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145902 | GRCh37: NC_000011.9:g.(?_62016992)_(62713565_?)dup, GRCh38: NC_000011.10:g.(?_62249520)_(62946093_?)dup, NCBI36: NC_000011.8:g.(?_61773568)_(62470141_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138411.4, VCV000149385.2 | 3 |