A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066606



Internal ID18809137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79955666..80224006hg38UCSC Ensembl
Innerchr17:77929465..78197805hg19UCSC Ensembl
Innerchr17:75544060..75812400hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38268341
hg19268341
hg18268341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725170
Samples
Known GenesCARD14, CCDC40, EIF4A3, GAA, SGSH, SLC26A11, TBC1D16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066606
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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