A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598609



Internal ID16039332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71010851..71036323hg38UCSC Ensembl
Innerchr5:70306678..70332150hg19UCSC Ensembl
Innerchr5:70342434..70367906hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3825473
hg1925473
hg1825473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9866n54
Supporting Variantsnssv1035038
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598609
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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