A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598559



Internal ID16039282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70954579..71098572hg38UCSC Ensembl
Innerchr5:70250406..70394399hg19UCSC Ensembl
Innerchr5:70286162..70430155hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38143994
hg19143994
hg18143994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9860n54
Supporting Variantsnssv1034942
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598559
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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