A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700490



Internal ID15437142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150245524..150247860hg38UCSC Ensembl
Innerchr5:149625087..149627423hg19UCSC Ensembl
Innerchr5:149605280..149607616hg18UCSC Ensembl
Innerchr5:149605280..149607616hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382337
hg192337
hg182337
hg172337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524540
Supporting Variants
Samples
Known GenesCAMK2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700490
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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