A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598561



Internal ID16039284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70955476..71060271hg38UCSC Ensembl
Innerchr5:70251303..70356098hg19UCSC Ensembl
Innerchr5:70287059..70391854hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38104796
hg19104796
hg18104796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034944
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)nsv598561
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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