A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060182



Internal ID18802713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76597910..76660156hg38UCSC Ensembl
Innerchr17:74593992..74656238hg19UCSC Ensembl
Innerchr17:72105587..72167833hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3862247
hg1962247
hg1862247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567809
Samples
Known GenesST6GALNAC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060182
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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