A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056340



Internal ID19145559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46270932hg38UCSC Ensembl
Innerchr17:44214888..44348298hg19UCSC Ensembl
Innerchr17:41570665..41704075hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133411
hg19133411
hg18133411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3208n100
Supporting Variantsnssv3723937
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056340
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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