A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517251



Internal ID15444544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146242909..146251174hg38UCSC Ensembl
Innerchr5:145622472..145630737hg19UCSC Ensembl
Innerchr5:145602665..145610930hg18UCSC Ensembl
Innerchr5:145602665..145610930hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg388266
hg198266
hg188266
hg178266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654123, nssv690575, nssv662824
Samples
Known GenesRBM27
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517251
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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