nsv4350781
- 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:6,186,546
- Description:GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) AND Chromosome 17P13.3, telomeric, duplication syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31546 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 29089 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350781 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 197,755 | 6,384,300 |
| nsv4350781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 47,546 | 6,287,620 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606040 | copy number gain | Multiple | Multiple | CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, telomeric, duplication syndrome; Tibial aplasia-ectrodactyly syndrome | Pathogenic | ClinVar | RCV000767586.1, VCV000625578.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606040 | Remapped | Good | NC_000017.11:g.(?_ 197755)_(6384300_? )dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 197,755 | 6,384,300 |
| nssv15606040 | Submitted genomic | NC_000017.10:g.(?_ 47546)_(6287620_?) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 47,546 | 6,287,620 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606040 | GRCh37: NC_000017.10:g.(?_47546)_(6287620_?)dup | copy number gain | de novo | CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, telomeric, duplication syndrome; Tibial aplasia-ectrodactyly syndrome | Pathogenic | ClinVar | RCV000767586.1, VCV000625578.1 |