A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598587



Internal ID16039310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009869..71036323hg38UCSC Ensembl
Innerchr5:70305696..70332150hg19UCSC Ensembl
Innerchr5:70341452..70367906hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3826455
hg1926455
hg1826455
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034986, nssv1034987
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)nsv598587
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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