A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598751



Internal ID16386160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81538319..81587291hg38UCSC Ensembl
Innerchr5:80834138..80883110hg19UCSC Ensembl
Innerchr5:80869894..80918866hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3848973
hg1948973
hg1848973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153943
SamplesHGDP01418
Known GenesSSBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598751
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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