nsv5980455
- 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:479,522
- Description:GRCh38/hg38 Xq28(chrX:153905292-154361918) AND Syndromic X-linked intellectual disability Lubs type
- Publication(s):Belligni et al. 2010, Meins et al. 2005, Van Esch et al. 2005, Van Esch et al. 2008, del Gaudio et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 829 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 825 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv5980455 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,884,414 | 153,905,292 | 154,361,918 | 154,363,935 | ||
| nsv5980455 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,149,868 | 153,149,868 | 153,592,303 | 153,592,303 |
| nsv5980455 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,318,396 | 1,318,396 | 1,797,914 | 1,797,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517435 | copy number gain | Multiple | Multiple | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV000012611.25, VCV000011838.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17517435 | Submitted genomic | NC_000023.11:g.(15 3884414_153905292) _(154361918_154363 935)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,884,414 | 153,905,292 | 154,361,918 | 154,363,935 | ||
| nssv17517435 | Remapped | Good | NW_003871103.3:g.( 1318396_1318396)_( 1797914_1797914)du p | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,318,396 | 1,318,396 | 1,797,914 | 1,797,914 |
| nssv17517435 | Remapped | Pass | NC_000023.10:g.(15 3149868_153149868) _(153592303_153592 303)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,149,868 | 153,149,868 | 153,592,303 | 153,592,303 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517435 | GRCh38: NC_000023.11:g.(153884414_153905292)_(154361918_154363935)dup | copy number gain | germline | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV000012611.25, VCV000011838.2 |