A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598605



Internal ID16039328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71010760..71097145hg38UCSC Ensembl
Innerchr5:70306587..70392972hg19UCSC Ensembl
Innerchr5:70342343..70428728hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3886386
hg1986386
hg1886386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9868n54
Supporting Variantsnssv1035034, nssv1035033
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)nsv598605
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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