A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534863



Internal ID15501998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36663856..36698329hg38UCSC Ensembl
Innerchr17:35020291..35054772hg19UCSC Ensembl
Innerchr17:32094404..32128885hg18UCSC Ensembl
Innerchr17:32094404..32128885hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3834474
hg1934482
hg1834482
hg1734482
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457737
Supporting Variants
Samples1780854065_A
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv534863
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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