nsv4675311
- 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:214,863
- Description:GRCh37/hg19 17q21.31(chr17:41384515-41599383)x4 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: 1199 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1236 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675311 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,307,153 | 43,522,015 |
| nsv4675311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,384,515 | 41,599,383 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207325 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006901.2, VCV000815935.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207325 | Remapped | Good | NC_000017.11:g.(?_ 43307153)_(4352201 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,307,153 | 43,522,015 |
| nssv16207325 | Submitted genomic | NC_000017.10:g.(?_ 41384515)_(4159938 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,384,515 | 41,599,383 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207325 | GRCh37: NC_000017.10:g.(?_41384515)_(41599383_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006901.2, VCV000815935.2 | 4 |