nsv3922415
- 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:458,727
- Description:GRCh38/hg38 11p15.5(chr11:2106943-2565669)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: 1686 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1686 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 572 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922415 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 2,106,943 | 2,565,669 |
| nsv3922415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 2,128,173 | 2,586,899 |
| nsv3922415 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 2,084,749 | 2,543,475 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138907 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143587.4, VCV000155520.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138907 | Submitted genomic | NC_000011.10:g.(?_ 2106943)_(2565669_ ?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 2,106,943 | 2,565,669 |
| nssv15138907 | Submitted genomic | NC_000011.9:g.(?_2 128173)_(2586899_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 2,128,173 | 2,586,899 |
| nssv15138907 | Submitted genomic | NC_000011.8:g.(?_2 084749)_(2543475_? )dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 2,084,749 | 2,543,475 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138907 | GRCh37: NC_000011.9:g.(?_2128173)_(2586899_?)dup, GRCh38: NC_000011.10:g.(?_2106943)_(2565669_?)dup, NCBI36: NC_000011.8:g.(?_2084749)_(2543475_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143587.4, VCV000155520.2 | 3 |