A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066820



Internal ID18809351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46148387..46169798hg38UCSC Ensembl
Innerchr17:44225753..44247164hg19UCSC Ensembl
Innerchr17:41581530..41602941hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3821412
hg1921412
hg1821412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3228n100
Supporting Variantsnssv3557261, nssv3557260
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066820
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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