nsv7097899
- 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:12,951
- Description:NC_000008.10:g.(?_145654526)_(145669797_?)dup 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: 384 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097899 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,431,464 | 144,444,414 |
| nsv7097899 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,654,526 | 145,669,797 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790809 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003116661.2, VCV002425867.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790809 | Remapped | Pass | NC_000008.11:g.(?_ 144431464)_(144444 414_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,431,464 | 144,444,414 |
| nssv18790809 | Submitted genomic | NC_000008.10:g.(?_ 145654526)_(145669 797_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,654,526 | 145,669,797 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790809 | GRCh37: NC_000008.10:g.(?_145654526)_(145669797_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003116661.2, VCV002425867.2 |