A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023116



Internal ID18765649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69448480..69571455hg38UCSC Ensembl
Innerchr5:68744307..68867282hg19UCSC Ensembl
Innerchr5:68780063..68903038hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38122976
hg19122976
hg18122976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3640796
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023116
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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