A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034695



Internal ID15541195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69565703..69603042hg38UCSC Ensembl
Innerchr5:68861530..68898869hg19UCSC Ensembl
Innerchr5:68897286..68934625hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3837340
hg1937340
hg1837340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598458
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034695
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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