A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598591



Internal ID16039314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009869..71072745hg38UCSC Ensembl
Innerchr5:70305696..70368572hg19UCSC Ensembl
Innerchr5:70341452..70404328hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3862877
hg1962877
hg1862877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1034993
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)nsv598591
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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