nsv7137010
- 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:16,478
- Description:NC_000023.10:g.(?_585078)_(595562_601555)dup 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: 411 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 38 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7137010 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 624,343 | 634,827 | 640,820 |
| nsv7137010 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 585,078 | 595,562 | 601,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830773 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV003317746.1, VCV002573410.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18830773 | Remapped | Perfect | NC_000023.11:g.(?_ 624343)_(634827_64 0820)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 624,343 | 634,827 | 640,820 |
| nssv18830773 | Submitted genomic | NC_000023.10:g.(?_ 585078)_(595562_60 1555)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 585,078 | 595,562 | 601,555 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830773 | GRCh37: NC_000023.10:g.(?_585078)_(595562_601555)dup | duplication | germline | not specified | Uncertain significance | ClinVar | RCV003317746.1, VCV002573410.1 |