nsv3897135
- 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:49,683
- Description:GRCh37/hg19 17q25.1(chr17:73872539-73922221)x1 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: 295 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,876,458 | 75,926,140 |
| nsv3897135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,872,539 | 73,922,221 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15173574 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752204.2, VCV000615568.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15173574 | Remapped | Perfect | NC_000017.11:g.(?_ 75876458)_(7592614 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,876,458 | 75,926,140 |
| nssv15173574 | Submitted genomic | NC_000017.10:g.(?_ 73872539)_(7392222 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,872,539 | 73,922,221 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15173574 | GRCh37: NC_000017.10:g.(?_73872539)_(73922221_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752204.2, VCV000615568.2 | 1 |