A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696325



Internal ID15432977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29680318..29731323hg38UCSC Ensembl
Innerchr14:30149524..30200529hg19UCSC Ensembl
Innerchr14:29219275..29270280hg18UCSC Ensembl
Innerchr14:29219275..29270280hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3851006
hg1951006
hg1851006
hg1751006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518869
Supporting Variants
Samples
Known GenesMIR548AI, PRKD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696325
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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