A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528851



Internal ID15456144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138446515..138469963hg38UCSC Ensembl
Innerchr5:137782204..137805652hg19UCSC Ensembl
Innerchr5:137810103..137833551hg18UCSC Ensembl
Innerchr5:137810103..137833551hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3823449
hg1923449
hg1823449
hg1723449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705530
Samples
Known GenesEGR1, REEP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528851
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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