nsv4675240
- 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:86,297
- Description:GRCh37/hg19 17p13.2(chr17:3431968-3518264)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: 667 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 667 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675240 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,528,674 | 3,614,970 |
| nsv4675240 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,431,968 | 3,518,264 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208489 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006861.2, VCV000815895.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208489 | Remapped | Perfect | NC_000017.11:g.(?_ 3528674)_(3614970_ ?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,528,674 | 3,614,970 |
| nssv16208489 | Submitted genomic | NC_000017.10:g.(?_ 3431968)_(3518264_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,431,968 | 3,518,264 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208489 | GRCh37: NC_000017.10:g.(?_3431968)_(3518264_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006861.2, VCV000815895.2 | 1 |