nsv4728919
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:272,752
- Description:GRCh37/hg19 11p15.5-15.4(chr11:2629917-2902668)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 643 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728919 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 2,608,687 | 2,881,438 |
| nsv4728919 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 2,629,917 | 2,902,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255741 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260127.1, VCV000980951.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255741 | Remapped | Perfect | NC_000011.10:g.(?_ 2608687)_(2881438_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 2,608,687 | 2,881,438 |
| nssv16255741 | Submitted genomic | NC_000011.9:g.(?_2 629917)_(2902668_? )dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 2,629,917 | 2,902,668 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255741 | GRCh37: NC_000011.9:g.(?_2629917)_(2902668_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001260127.1, VCV000980951.1 | 3 |