A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575212



Internal ID16015935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46182553..46192998hg38UCSC Ensembl
Innerchr17:44259919..44270364hg19UCSC Ensembl
Innerchr17:41615696..41626141hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810446
hg1910446
hg1810446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n54
Supporting Variantsnssv872467
Samples
Known GenesKANSL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575212
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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