nsv5200338
- 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:1,194,533
- Description:GRCh37/hg19 1q41-42.12(chr1:223552998-224761890) 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: 3525 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3537 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200338 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 223,379,656 | 224,574,188 |
| nsv5200338 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 223,552,998 | 224,761,890 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16736644 | copy number loss | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001291986.1, VCV000997085.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736644 | Remapped | Good | NC_000001.11:g.(?_ 223379656)_(224574 188_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 223,379,656 | 224,574,188 |
| nssv16736644 | Submitted genomic | NC_000001.10:g.(?_ 223552998)_(224761 890_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 223,552,998 | 224,761,890 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16736644 | GRCh37: NC_000001.10:g.(?_223552998)_(224761890_?)del | copy number loss | paternal | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001291986.1, VCV000997085.1 |