A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057546



Internal ID18800077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46137522hg38UCSC Ensembl
Innerchr17:44165803..44214888hg19UCSC Ensembl
Innerchr17:41521621..41570665hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849086
hg1949086
hg1849045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3720301, nssv3720302, nssv3546161, nssv3546162
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)nsv1057546
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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