A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701334



Internal ID15437986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150286286..150295701hg38UCSC Ensembl
Innerchr5:149665849..149675264hg19UCSC Ensembl
Innerchr5:149646042..149655457hg18UCSC Ensembl
Innerchr5:149646042..149655457hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg389416
hg199416
hg189416
hg179416
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525244
Supporting Variants
Samples
Known GenesCAMK2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701334
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer