nsv3887282
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:96,735
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 130 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3887282 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 102,341,782 | 102,438,516 |
nsv3887282 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 101,596,705 | 101,693,437 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15139363 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000448172.3, VCV000395397.3 | 3 |
nssv15140402 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000446831.3, VCV000395396.3 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15139363 | Remapped | Good | NC_000023.11:g.(?_ 102341782)_(102438 516_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 102,341,782 | 102,438,516 |
nssv15140402 | Remapped | Good | NC_000023.11:g.(?_ 102341782)_(102438 516_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 102,341,782 | 102,438,516 |
nssv15139363 | Submitted genomic | NC_000023.10:g.(?_ 101596705)_(101693 437_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 101,596,705 | 101,693,437 | ||
nssv15140402 | Submitted genomic | NC_000023.10:g.(?_ 101596705)_(101693 437_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 101,596,705 | 101,693,437 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15139363 | GRCh37: NC_000023.10:g.(?_101596705)_(101693437_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000448172.3, VCV000395397.3 | 3 |
nssv15140402 | GRCh37: NC_000023.10:g.(?_101596705)_(101693437_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000446831.3, VCV000395396.3 | 2 |