nsv3912748
- 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:335,494
- Description:GRCh38/hg38 11q12.2(chr11:61181337-61516830)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: 1083 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1083 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912748 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 61,181,337 | 61,516,830 |
| nsv3912748 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 60,948,809 | 61,284,302 |
| nsv3912748 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 60,705,385 | 61,040,878 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136732 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000139309.6, VCV000150457.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136732 | Submitted genomic | NC_000011.10:g.(?_ 61181337)_(6151683 0_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 61,181,337 | 61,516,830 |
| nssv15136732 | Submitted genomic | NC_000011.9:g.(?_6 0948809)_(61284302 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 60,948,809 | 61,284,302 |
| nssv15136732 | Submitted genomic | NC_000011.8:g.(?_6 0705385)_(61040878 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 60,705,385 | 61,040,878 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136732 | GRCh37: NC_000011.9:g.(?_60948809)_(61284302_?)dup, GRCh38: NC_000011.10:g.(?_61181337)_(61516830_?)dup, NCBI36: NC_000011.8:g.(?_60705385)_(61040878_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000139309.6, VCV000150457.2 | 3 |