nsv6637728
- 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:379,665
- Description:GRCh37/hg19 17q23.2(chr17:60070415-60450079)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: 1289 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1289 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637728 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 61,993,054 | 62,372,718 |
| nsv6637728 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 60,070,415 | 60,450,079 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329314 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475791.1, VCV001809418.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329314 | Remapped | Perfect | NC_000017.11:g.(?_ 61993054)_(6237271 8_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 61,993,054 | 62,372,718 |
| nssv18329314 | Submitted genomic | NC_000017.10:g.(?_ 60070415)_(6045007 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 60,070,415 | 60,450,079 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329314 | GRCh37: NC_000017.10:g.(?_60070415)_(60450079_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475791.1, VCV001809418.1 | 3 |