A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534792



Internal ID15510173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6169149..6227773hg38UCSC Ensembl
Innerchr17:6072469..6131093hg19UCSC Ensembl
Innerchr17:6013193..6071817hg18UCSC Ensembl
Innerchr17:6013193..6071817hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3858625
hg1958625
hg1858625
hg1758625
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457656
Supporting Variants
SamplesHGDP01201
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)nssv534792
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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