A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035032



Internal ID15541532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71010760..71092149hg38UCSC Ensembl
Innerchr5:70306587..70387976hg19UCSC Ensembl
Innerchr5:70342343..70423732hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3881390
hg1981390
hg1881390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598604
Supporting Variants
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)nssv1035032
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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