A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457655



Internal ID15517720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5909208..6015242hg38UCSC Ensembl
Innerchr17:5812528..5918562hg19UCSC Ensembl
Innerchr17:5753252..5859286hg18UCSC Ensembl
Innerchr17:5753252..5859286hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38106035
hg19106035
hg18106035
hg17106035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534791
SamplesHGDP01036
Known GenesLOC339166
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)nsv457655
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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