A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598589



Internal ID16039312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009869..71052177hg38UCSC Ensembl
Innerchr5:70305696..70348004hg19UCSC Ensembl
Innerchr5:70341452..70383760hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3842309
hg1942309
hg1842309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9867n54
Supporting Variantsnssv1034991, nssv1034990, nssv1034989
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)nsv598589
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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