A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598571



Internal ID16039294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70995423..71073570hg38UCSC Ensembl
Innerchr5:70291250..70369397hg19UCSC Ensembl
Innerchr5:70327006..70405153hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3878148
hg1978148
hg1878148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1034954
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)nsv598571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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