nsv6137663
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:134,484
- Description:Single allele AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 420 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137663 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 46,009,609 | 46,144,092 | ||
| nsv6137663 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 46,236,748 | 46,371,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683417 | duplication | Multiple | Multiple | not specified | not provided | ClinVar | RCV001568391.1, VCV001180434.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683417 | Submitted genomic | NC_000002.12:g.460 09609_46144092dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 46,009,609 | 46,144,092 | ||
| nssv17683417 | Remapped | Perfect | NC_000002.11:g.462 36748_46371231dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 46,236,748 | 46,371,231 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683417 | GRCh38: NC_000002.12:g.46009609_46144092dup | duplication | paternal | not specified | not provided | ClinVar | RCV001568391.1, VCV001180434.1 | 3 |