A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057785



Internal ID18800316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089043..46169798hg38UCSC Ensembl
Innerchr17:44166409..44247164hg19UCSC Ensembl
Innerchr17:41522227..41602941hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3880756
hg1980756
hg1880715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3548442
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)nsv1057785
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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