A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598563



Internal ID16039286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70961328..71128204hg38UCSC Ensembl
Innerchr5:70257155..70424031hg19UCSC Ensembl
Innerchr5:70292911..70459787hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38166877
hg19166877
hg18166877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9857n54
Supporting Variantsnssv1034946
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)nsv598563
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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