nsv491563
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,377,392
- Description:
17q12 recurrent (RCAD syndrome) region (includes HNF1B) - Publication(s):Bellanné-Chantelot et al. 2005, Bierhals et al. 2013, Cooper et al. 2011, Mefford et al. 2007, Moreno-De-Luca et al. 2010, Nagamani et al. 2009, Riggs et al. 2011, Rosenfeld et al. 2012
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3672 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 3428 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 3981 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv491563 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 36,459,259 | 37,832,869 |
nsv491563 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,163 | 2,071,554 |
nsv491563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,815,072 | 36,192,489 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|
nssv1184554 | copy number loss | Curated | Curated | CHROMOSOME 17q12 DELETION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
nssv1184555 | copy number gain | Curated | Curated | CHROMOSOME 17q12 DUPLICATION SYNDROME | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1184554 | Remapped | Good | NT_187614.1:g.(?_6 94163)_(2071554_?) del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,163 | 2,071,554 |
nssv1184555 | Remapped | Good | NT_187614.1:g.(?_6 94163)_(2071554_?) dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 694,163 | 2,071,554 |
nssv1184554 | Remapped | Good | NC_000017.11:g.(?_ 36459259)_(3783286 9_?)del | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,259 | 37,832,869 |
nssv1184555 | Remapped | Good | NC_000017.11:g.(?_ 36459259)_(3783286 9_?)dup | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 36,459,259 | 37,832,869 |
nssv1184554 | Submitted genomic | NC_000017.10:g.(?_ 34815072)_(3619248 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,072 | 36,192,489 | ||
nssv1184555 | Submitted genomic | NC_000017.10:g.(?_ 34815072)_(3619248 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,815,072 | 36,192,489 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|
nssv1184554 | GRCh37: NC_000017.10:g.(?_34815072)_(36192489_?)del | copy number loss | CHROMOSOME 17q12 DELETION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
nssv1184555 | GRCh37: NC_000017.10:g.(?_34815072)_(36192489_?)dup | copy number gain | CHROMOSOME 17q12 DUPLICATION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |