nsv6137705
- 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:5,935,040
- Description:GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1 AND Neurodevelopmental disorder
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9541 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 7610 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 8745 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6137705 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 61,281,967 | 67,217,006 | - |
| nsv6137705 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 36,419,496 | 36,419,496 | 39,445,729 | - |
| nsv6137705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 36,419,493 | 36,442,195 | 39,156,958 | 40,774,118 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17683433 | copy number loss | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580193.1, VCV001210152.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17683433 | Remapped | Pass | NC_000009.12:g.(?_ 61281967)_(6721700 6_?)delNC_000009.1 2:g.(36419496_3641 9496)_(39445729_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 36,419,496 | 36,419,496 | 39,445,729 | - |
| nssv17683433 | Remapped | Pass | NC_000009.12:g.(?_ 61281967)_(6721700 6_?)delNC_000009.1 2:g.(36419496_3641 9496)_(39445729_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 61,281,967 | 67,217,006 | - |
| nssv17683433 | Submitted genomic | NC_000009.11:g.(36 419493_36442195)_( 39156958_40774118) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 36,419,493 | 36,442,195 | 39,156,958 | 40,774,118 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17683433 | GRCh37: NC_000009.11:g.(36419493_36442195)_(39156958_40774118)del | copy number loss | unknown | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV001580193.1, VCV001210152.1 | 1 |