A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034921



Internal ID15541421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70446718..70485867hg38UCSC Ensembl
Innerchr5:69742545..69781694hg19UCSC Ensembl
Innerchr5:69778301..69817450hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3839150
hg1939150
hg1839150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598539
Supporting Variants
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034921
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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