nsv5381768
- 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:8,089,644
- Description:GRCh37/hg19 10p14-13(chr10:9137489-17227168) AND Neurodevelopmental delay
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 22937 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 22941 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 9,095,526 | 17,185,169 |
| nsv5381768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 9,137,489 | 17,227,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867371 | copy number loss | Multiple | Multiple | Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV001352639.1, VCV001047870.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867371 | Remapped | Perfect | NC_000010.11:g.(?_ 9095526)_(17185169 _?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 9,095,526 | 17,185,169 |
| nssv16867371 | Submitted genomic | NC_000010.10:g.(?_ 9137489)_(17227168 _?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 9,137,489 | 17,227,168 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867371 | GRCh37: NC_000010.10:g.(?_9137489)_(17227168_?)del | copy number loss | de novo | Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV001352639.1, VCV001047870.1 |