A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575258



Internal ID16015981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46193527..46262887hg38UCSC Ensembl
Innerchr17:44270893..44340253hg19UCSC Ensembl
Innerchr17:41626670..41696030hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3869361
hg1969361
hg1869361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5634n54
Supporting Variantsnssv872534
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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