A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012709



Internal ID18755241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:175023400..175840083hg38UCSC Ensembl
Innerchr2:175888128..176704811hg19UCSC Ensembl
Innerchr2:175596374..176413057hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38816684
hg19816684
hg18816684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729273
Samples
Known GenesATF2, ATP5G3, MIR933
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012709
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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