A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598617



Internal ID16039340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71011359..71086488hg38UCSC Ensembl
Innerchr5:70307186..70382315hg19UCSC Ensembl
Innerchr5:70342942..70418071hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3875130
hg1975130
hg1875130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1035046
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)nsv598617
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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