nsv3902586
- 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:922,305
- Description:GRCh38/hg38 Xq23-24(chrX:117115633-118037937)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: 1604 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1601 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3902586 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 117,115,633 | 118,037,937 |
| nsv3902586 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 116,249,601 | 117,171,900 |
| nsv3902586 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 116,133,629 | 117,055,928 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121329 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140467.3, VCV000151781.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121329 | Submitted genomic | NC_000023.11:g.(?_ 117115633)_(118037 937_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 117,115,633 | 118,037,937 |
| nssv15121329 | Submitted genomic | NC_000023.10:g.(?_ 116249601)_(117171 900_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 116,249,601 | 117,171,900 |
| nssv15121329 | Submitted genomic | NC_000023.9:g.(?_1 16133629)_(1170559 28_?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 116,133,629 | 117,055,928 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121329 | GRCh37: NC_000023.10:g.(?_116249601)_(117171900_?)dup, GRCh38: NC_000023.11:g.(?_117115633)_(118037937_?)dup, NCBI36: NC_000023.9:g.(?_116133629)_(117055928_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000140467.3, VCV000151781.1 | 3 |