nsv3923443
- 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:2,441,530
- Description:GRCh38/hg38 11p15.4(chr11:7995676-10437205)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: 6754 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 6754 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1637 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923443 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 7,995,676 | 10,437,205 |
| nsv3923443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 8,017,223 | 10,458,752 |
| nsv3923443 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 7,973,799 | 10,415,328 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161577 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143490.6, VCV000155423.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161577 | Submitted genomic | NC_000011.10:g.(?_ 7995676)_(10437205 _?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 7,995,676 | 10,437,205 |
| nssv15161577 | Submitted genomic | NC_000011.9:g.(?_8 017223)_(10458752_ ?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 8,017,223 | 10,458,752 |
| nssv15161577 | Submitted genomic | NC_000011.8:g.(?_7 973799)_(10415328_ ?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 7,973,799 | 10,415,328 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161577 | GRCh37: NC_000011.9:g.(?_8017223)_(10458752_?)dup, GRCh38: NC_000011.10:g.(?_7995676)_(10437205_?)dup, NCBI36: NC_000011.8:g.(?_7973799)_(10415328_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143490.6, VCV000155423.2 | 3 |