nsv3913714
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:373,174
- Description:NCBI36/hg18 Xq25(chrX:126497801-126819212)x1 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: 684 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3913714 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 127,506,563 | 127,506,563 | 127,879,736 | 127,879,736 |
| nsv3913714 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 126,640,544 | 126,670,120 | 126,991,531 | 127,013,715 |
| nsv3913714 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 126,468,225 | 126,497,801 | 126,819,212 | 126,841,396 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15129653 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000453144.2, VCV000401000.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15129653 | Remapped | Good | NC_000023.11:g.(12 7506563_127506563) _(127879736_127879 736)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 127,506,563 | 127,506,563 | 127,879,736 | 127,879,736 |
| nssv15129653 | Remapped | Perfect | NC_000023.10:g.(12 6640544_126670120) _(126991531_127013 715)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 126,640,544 | 126,670,120 | 126,991,531 | 127,013,715 |
| nssv15129653 | Submitted genomic | NC_000023.9:g.(126 468225_126497801)_ (126819212_1268413 96)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 126,468,225 | 126,497,801 | 126,819,212 | 126,841,396 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15129653 | NCBI36: NC_000023.9:g.(126468225_126497801)_(126819212_126841396)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000453144.2, VCV000401000.2 | 1 |