A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516239



Internal ID15443532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:68543973..68559153hg38UCSC Ensembl
Innerchr14:69010690..69025870hg19UCSC Ensembl
Innerchr14:68080443..68095623hg18UCSC Ensembl
Innerchr14:68080443..68095623hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3815181
hg1915181
hg1815181
hg1715181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654993, nssv666993
Samples
Known GenesRAD51B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516239
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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