nsv4349383
- 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:9,030,801
- Description:GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) 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: 24262 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 24066 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349383 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 59,279,727 | 68,310,527 |
| nsv4349383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 57,357,088 | 66,306,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605934 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767764.1, VCV000625756.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605934 | Remapped | Good | NC_000017.11:g.(?_ 59279727)_(6831052 7_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,279,727 | 68,310,527 |
| nssv15605934 | Submitted genomic | NC_000017.10:g.(?_ 57357088)_(6630666 8_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 57,357,088 | 66,306,668 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605934 | GRCh37: NC_000017.10:g.(?_57357088)_(66306668_?)dup | copy number gain | de novo | not provided | Pathogenic | ClinVar | RCV000767764.1, VCV000625756.1 |