nsv4675502
- 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:13,595,132
- Description:GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)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: 36540 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 36542 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 13,949,210 | 27,544,341 |
| nsv4675502 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 13,970,757 | 27,565,888 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207088 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006388.1, VCV000815411.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207088 | Remapped | Perfect | NC_000011.10:g.(?_ 13949210)_(2754434 1_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 13,949,210 | 27,544,341 |
| nssv16207088 | Submitted genomic | NC_000011.9:g.(?_1 3970757)_(27565888 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 13,970,757 | 27,565,888 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207088 | GRCh37: NC_000011.9:g.(?_13970757)_(27565888_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006388.1, VCV000815411.1 | 3 |