A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528571



Internal ID15109178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71383799..71471442hg38UCSC Ensembl
Innerchr5:70679626..70767269hg19UCSC Ensembl
Innerchr5:70715382..70803025hg18UCSC Ensembl
Innerchr5:70715382..70803025hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3887644
hg1987644
hg1887644
hg1787644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705190
Samples
Known GenesBDP1, PMCHL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528571
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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