A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575225



Internal ID16362634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46187878..46215654hg38UCSC Ensembl
Innerchr17:44265244..44293020hg19UCSC Ensembl
Innerchr17:41621021..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3827777
hg1927777
hg1827777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872481
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575225
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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