nsv4684131
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:588,973
- Description:NC_000023.10:g.102632399_103221016del AND Global developmental delay
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1110 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1108 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684131 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,377,471 | 103,966,443 |
| nsv4684131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 102,632,399 | 103,221,016 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215157 | deletion | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001172265.1, VCV000830310.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215157 | Remapped | Good | NC_000023.11:g.103 377471_103966443de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,377,471 | 103,966,443 |
| nssv16215157 | Submitted genomic | NC_000023.10:g.102 632399_103221016de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 102,632,399 | 103,221,016 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215157 | GRCh37: NC_000023.10:g.102632399_103221016del | deletion | de novo | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001172265.1, VCV000830310.1 | 1 |