nsv4729906
- 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:389,578
- Description:GRCh37/hg19 17q12(chr17:34405241-34823294)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: 1759 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2423 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729906 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 312,769 | 702,346 |
| nsv4729906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,405,241 | 34,823,294 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255625 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259893.1, VCV000980717.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255625 | Remapped | Pass | NT_187614.1:g.(?_3 12769)_(702346_?)d el | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 312,769 | 702,346 |
| nssv16255625 | Submitted genomic | NC_000017.10:g.(?_ 34405241)_(3482329 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,405,241 | 34,823,294 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255625 | GRCh37: NC_000017.10:g.(?_34405241)_(34823294_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259893.1, VCV000980717.1 | 1 |