nsv3907015
- 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:792,618
- Description:GRCh38/hg38 Xp22.2(chrX:12981073-13773690)x2 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: 1160 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1160 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3907015 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 12,981,073 | 13,773,690 |
| nsv3907015 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 12,999,192 | 13,791,809 |
| nsv3907015 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 12,909,113 | 13,701,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147519 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000140919.5, VCV000152364.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147519 | Submitted genomic | NC_000023.11:g.(?_ 12981073)_(1377369 0_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 12,981,073 | 13,773,690 |
| nssv15147519 | Submitted genomic | NC_000023.10:g.(?_ 12999192)_(1379180 9_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 12,999,192 | 13,791,809 |
| nssv15147519 | Submitted genomic | NC_000023.9:g.(?_1 2909113)_(13701730 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 12,909,113 | 13,701,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147519 | GRCh37: NC_000023.10:g.(?_12999192)_(13791809_?)dup, GRCh38: NC_000023.11:g.(?_12981073)_(13773690_?)dup, NCBI36: NC_000023.9:g.(?_12909113)_(13701730_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000140919.5, VCV000152364.2 | 2 |