A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575229



Internal ID16015952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46188336..46203331hg38UCSC Ensembl
Innerchr17:44265702..44280697hg19UCSC Ensembl
Innerchr17:41621479..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3814996
hg1914996
hg1814996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5636n54
Supporting Variantsnssv872485
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)nsv575229
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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