nsv6290239
- 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:16,240,713
- Description:GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 AND Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 59089 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 58907 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290239 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 117,024,097 | 133,264,809 |
| nsv6290239 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 117,461,902 | 133,841,395 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955871 | copy number gain | Multiple | Multiple | NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS; Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Likely pathogenic | ClinVar | RCV001801213.1, VCV001330196.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955871 | Remapped | Good | NC_000012.12:g.(?_ 117024097)_(133264 809_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 117,024,097 | 133,264,809 |
| nssv17955871 | Submitted genomic | NC_000012.11:g.(?_ 117461902)_(133841 395_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 117,461,902 | 133,841,395 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17955871 | GRCh37: NC_000012.11:g.(?_117461902)_(133841395_?)dup | copy number gain | unknown | NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS; Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | Likely pathogenic | ClinVar | RCV001801213.1, VCV001330196.1 | 3 |