A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575253



Internal ID16362662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46193425..46248879hg38UCSC Ensembl
Innerchr17:44270791..44326245hg19UCSC Ensembl
Innerchr17:41626568..41682022hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3855455
hg1955455
hg1855455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5633n54
Supporting Variantsnssv872527
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)nsv575253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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