nsv3890215
- 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:4,915,281
- Description:GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)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: 13089 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 13092 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3890215 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 48,403,727 | 53,319,007 |
| nsv3890215 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,481,089 | 51,396,368 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151905 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000513510.3, VCV000444852.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151905 | Remapped | Perfect | NC_000017.11:g.(?_ 48403727)_(5331900 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 48,403,727 | 53,319,007 |
| nssv15151905 | Submitted genomic | NC_000017.10:g.(?_ 46481089)_(5139636 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,481,089 | 51,396,368 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151905 | GRCh37: NC_000017.10:g.(?_46481089)_(51396368_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000513510.3, VCV000444852.3 | 1 |