A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055782



Internal ID18798313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46148387..46169631hg38UCSC Ensembl
Innerchr17:44225753..44246997hg19UCSC Ensembl
Innerchr17:41581530..41602774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3821245
hg1921245
hg1821245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3228n100
Supporting Variantsnssv3557259, nssv3556889
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)nsv1055782
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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