nsv6636896
- 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:85,167
- Description:GRCh37/hg19 Xp21.1(chrX:32835255-32920421)x2 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: 363 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 51 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6636896 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,817,138 | 32,902,304 |
nsv6636896 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,835,255 | 32,920,421 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18330299 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474559.1, VCV001808714.1 | 2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18330299 | Remapped | Perfect | NC_000023.11:g.(?_ 32817138)_(3290230 4_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,817,138 | 32,902,304 |
nssv18330299 | Submitted genomic | NC_000023.10:g.(?_ 32835255)_(3292042 1_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,835,255 | 32,920,421 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18330299 | GRCh37: NC_000023.10:g.(?_32835255)_(32920421_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002474559.1, VCV001808714.1 | 2 |