A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064123



Internal ID18806654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81168449..81282457hg38UCSC Ensembl
Innerchr17:79142249..79256257hg19UCSC Ensembl
Innerchr17:76756844..76870852hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38114009
hg19114009
hg18114009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567869
Samples
Known GenesAATK-AS1, AZI1, C17orf89, ENTHD2, SLC38A10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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