nsv3889841
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:88,159
- Description:NC_000023.11:g.(155524633_155545096)_(15554527
6_155612791)del AND Epsilon-trimethyllysine hydroxylase deficiency - Publication(s):Celestino-Soper et al. 2011, Celestino-Soper et al. 2012, Nava et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 529 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3889841 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,524,633 | 155,545,096 | 155,545,276 | 155,612,791 | ||
| nsv3889841 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,754,294 | 154,774,757 | 154,774,937 | 154,842,452 |
| nsv3889841 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,958,612 | 2,979,075 | 2,979,255 | 3,046,770 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119766 | deletion | Multiple | Multiple | AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6; Autism, susceptibility to, X-linked 6 | risk factor | ClinVar | RCV000024616.4, VCV000031938.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15119766 | Submitted genomic | NC_000023.11:g.(15 5524633_155545096) _(155545276_155612 791)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,524,633 | 155,545,096 | 155,545,276 | 155,612,791 | ||
| nssv15119766 | Remapped | Perfect | NW_003871103.3:g.( 2958612_2979075)_( 2979255_3046770)de l | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,958,612 | 2,979,075 | 2,979,255 | 3,046,770 |
| nssv15119766 | Remapped | Perfect | NC_000023.10:g.(15 4754294_154774757) _(154774937_154842 452)del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,754,294 | 154,774,757 | 154,774,937 | 154,842,452 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119766 | GRCh38: NC_000023.11:g.(155524633_155545096)_(155545276_155612791)del | deletion | germline | AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6; Autism, susceptibility to, X-linked 6 | risk factor | ClinVar | RCV000024616.4, VCV000031938.1 |