A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027213



Internal ID18769745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105798164..106382423hg38UCSC Ensembl
Innerchr7:105438610..106022869hg19UCSC Ensembl
Innerchr7:105225846..105810105hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38584260
hg19584260
hg18584260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3755478
Samples
Known GenesATXN7L1, CDHR3, NAMPT, SYPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027213
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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