A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066798



Internal ID18809329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113306..46202033hg38UCSC Ensembl
Innerchr17:44190672..44279399hg19UCSC Ensembl
Innerchr17:41546454..41635176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3888728
hg1988728
hg1888723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3201n100
Supporting Variantsnssv3548643
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066798
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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