A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598614



Internal ID16039337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71011195..71082813hg38UCSC Ensembl
Innerchr5:70307022..70378640hg19UCSC Ensembl
Innerchr5:70342778..70414396hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3871619
hg1971619
hg1871619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1035043
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)nsv598614
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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