A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034655



Internal ID15541155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534241..69592035hg38UCSC Ensembl
Innerchr5:68830068..68887862hg19UCSC Ensembl
Innerchr5:68865824..68923618hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3857795
hg1957795
hg1857795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598428
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034655
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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