nsv3905091
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:107,249
- Description:
GRCh38/hg38 Xp22.31(chrX:8629706-8736954)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 340 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905091 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 8,629,706 | 8,736,954 |
| nsv3905091 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 8,597,747 | 8,704,995 |
| nsv3905091 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 8,557,747 | 8,664,995 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134688 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000138131.4, VCV000149073.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134688 | Submitted genomic | NC_000023.11:g.(?_ 8629706)_(8736954_ ?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 8,629,706 | 8,736,954 |
| nssv15134688 | Submitted genomic | NC_000023.10:g.(?_ 8597747)_(8704995_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,597,747 | 8,704,995 |
| nssv15134688 | Submitted genomic | NC_000023.9:g.(?_8 557747)_(8664995_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,557,747 | 8,664,995 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134688 | GRCh37: NC_000023.10:g.(?_8597747)_(8704995_?)dup, GRCh38: NC_000023.11:g.(?_8629706)_(8736954_?)dup, NCBI36: NC_000023.9:g.(?_8557747)_(8664995_?)dup | copy number gain | see ClinVar for details | See cases | Likely benign | ClinVar | RCV000138131.4, VCV000149073.2 | 3 |