nsv6315342
- 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:10,282,856
- Description:GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) 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: 48579 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 12246 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 48226 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315342 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,048 | 10,490,903 |
| nsv6315342 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1 | 5,513,617 |
| nsv6315342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,048 | 10,348,413 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976867 | copy number gain | Multiple | Multiple | Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV002280754.1, VCV001703666.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976867 | Remapped | Pass | NW_018654717.1:g.( ?_1)_(5513617_?)du p | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1 | 5,513,617 |
| nssv17976867 | Remapped | Good | NC_000008.11:g.(?_ 208048)_(10490903_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,048 | 10,490,903 |
| nssv17976867 | Submitted genomic | NC_000008.10:g.(?_ 158048)_(10348413_ ?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,048 | 10,348,413 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976867 | GRCh37: NC_000008.10:g.(?_158048)_(10348413_?)dup | copy number gain | unknown | Neurodevelopmental delay; Neurodevelopmental delay | Pathogenic | ClinVar | RCV002280754.1, VCV001703666.1 |