nsv6315331
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:156,020,895
- Description:
See descriptions for individual calls in download files - Publication(s): et al. 2009, Dondorp et al. 2015, Délot et al. 2003, Erbel et al. 2014, Gregg et al. 2016, Lee et al. 2006, Mintz et al. 2021, Zentner et al. 2017
- ClinVar: RCV002280665.1
- ClinVar: RCV002280666.1
- ClinVar: RCV002280667.1
- ClinVar: RCV002280668.1
- ClinVar: VCV001703579.1
- ClinVar: VCV001703580.1
- GeneReviews: NBK1416
- HP: 0001252
- MONDO: 0018066
- MONDO: 0019499
- MONDO: 0100250
- MedGen: C0026827
- MedGen: C0041408
- MedGen: C0221033
- MedGen: C2748895
- OMIM: 400045
- PubMed: 16882788
- PubMed: 19272837
- PubMed: 20301589
- PubMed: 25173340
- PubMed: 25782669
- PubMed: 27467454
- PubMed: 28161018
- PubMed: 33514815
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 234861 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 234007 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315331 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nsv6315331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1 | 155,270,560 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976998 | copy number gain | Multiple | Multiple | 46,XX SEX REVERSAL 1; SRXX1; 46,XX sex reversal 1; Nonsyndromic 46,XX Testicular Disorders of Sex Development | Pathogenic | ClinVar | RCV002280665.1, VCV001703579.1 |
| nssv17976999 | copy number gain | Multiple | Multiple | Trisomy X syndrome | Pathogenic | ClinVar | RCV002280666.1, VCV001703579.1 |
| nssv17977000 | copy number gain | Multiple | Multiple | Hypotonia; Muscular hypotonia | Pathogenic | ClinVar | RCV002280667.1, VCV001703579.1 |
| nssv17977001 | copy number loss | Multiple | Multiple | Turner syndrome | Pathogenic | ClinVar | RCV002280668.1, VCV001703580.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976998 | Remapped | Good | NC_000023.11:g.(?_ 10001)_(156030895_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nssv17976999 | Remapped | Good | NC_000023.11:g.(?_ 10001)_(156030895_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nssv17977000 | Remapped | Good | NC_000023.11:g.(?_ 10001)_(156030895_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nssv17977001 | Remapped | Good | NC_000023.11:g.(?_ 10001)_(156030895_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nssv17976998 | Submitted genomic | NC_000023.10:g.(?_ 1)_(155270560_?)du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 1 | 155,270,560 | ||
| nssv17976999 | Submitted genomic | NC_000023.10:g.(?_ 1)_(155270560_?)du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 1 | 155,270,560 | ||
| nssv17977000 | Submitted genomic | NC_000023.10:g.(?_ 1)_(155270560_?)du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 1 | 155,270,560 | ||
| nssv17977001 | Submitted genomic | NC_000023.10:g.(?_ 1)_(155270560_?)de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 1 | 155,270,560 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976998 | GRCh37: NC_000023.10:g.(?_1)_(155270560_?)dup | copy number gain | unknown | 46,XX SEX REVERSAL 1; SRXX1; 46,XX sex reversal 1; Nonsyndromic 46,XX Testicular Disorders of Sex Development | Pathogenic | ClinVar | RCV002280665.1, VCV001703579.1 |
| nssv17976999 | GRCh37: NC_000023.10:g.(?_1)_(155270560_?)dup | copy number gain | see ClinVar for details | Trisomy X syndrome | Pathogenic | ClinVar | RCV002280666.1, VCV001703579.1 |
| nssv17977000 | GRCh37: NC_000023.10:g.(?_1)_(155270560_?)dup | copy number gain | unknown | Hypotonia; Muscular hypotonia | Pathogenic | ClinVar | RCV002280667.1, VCV001703579.1 |
| nssv17977001 | GRCh37: NC_000023.10:g.(?_1)_(155270560_?)del | copy number loss | see ClinVar for details | Turner syndrome | Pathogenic | ClinVar | RCV002280668.1, VCV001703580.1 |