A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598582



Internal ID16039305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71009726..71119977hg38UCSC Ensembl
Innerchr5:70305553..70415804hg19UCSC Ensembl
Innerchr5:70341309..70451560hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38110252
hg19110252
hg18110252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9864n54
Supporting Variantsnssv1034972
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)nsv598582
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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