nsv491561
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,646,438
- Description:8p23.1 recurrent region (includes GATA4) Note that genes used as landmarks are not necessarily causative of the complete phenotype(s) associated with the region.
- Publication(s):Ballarati et al. 2010, Barber et al. 2013, Guimiot et al. 2012, Riggs et al. 2011, Yu 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: 10463 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 8149 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 10463 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv491561 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 8,261,773 | 11,908,210 |
| nsv491561 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,439,840 | 5,086,091 |
| nsv491561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 8,119,295 | 11,765,719 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv1184587 | copy number loss | Curated | Curated | Chromosome 8, monosomy 8p23 1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
| nssv4004216 | copy number gain | Curated | Curated | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1184587 | Remapped | Good | NW_018654717.1:g.( ?_1439840)_(508609 1_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,439,840 | 5,086,091 |
| nssv4004216 | Remapped | Good | NW_018654717.1:g.( ?_1439840)_(508609 1_?)dup | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,439,840 | 5,086,091 |
| nssv1184587 | Remapped | Perfect | NC_000008.11:g.(?_ 8261773)_(11908210 _?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 8,261,773 | 11,908,210 |
| nssv4004216 | Remapped | Perfect | NC_000008.11:g.(?_ 8261773)_(11908210 _?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 8,261,773 | 11,908,210 |
| nssv1184587 | Submitted genomic | NC_000008.10:g.(?_ 8119295)_(11765719 _?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,119,295 | 11,765,719 | ||
| nssv4004216 | Submitted genomic | NC_000008.10:g.(?_ 8119295)_(11765719 _?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 8,119,295 | 11,765,719 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv1184587 | GRCh37: NC_000008.10:g.(?_8119295)_(11765719_?)del | copy number loss | Chromosome 8, monosomy 8p23 1 | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
| nssv4004216 | GRCh37: NC_000008.10:g.(?_8119295)_(11765719_?)dup | copy number gain | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |