A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515987



Internal ID15443044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:59832928..59845050hg38UCSC Ensembl
Innerchr5:59128754..59140876hg19UCSC Ensembl
Innerchr5:59164511..59176633hg18UCSC Ensembl
Innerchr5:59164511..59176633hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3812123
hg1912123
hg1812123
hg1712123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665596, nssv662909, nssv693644
Samples
Known GenesPDE4D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515987
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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