A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3548416



Internal ID18500011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46159702hg38UCSC Ensembl
Innerchr17:44166270..44237068hg19UCSC Ensembl
Innerchr17:41522088..41592845hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3870799
hg1970799
hg1870758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065692
Supporting Variants
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)nssv3548416
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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