A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527675



Internal ID15108282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62701829..62744562hg38UCSC Ensembl
Innerchr14:63168547..63211280hg19UCSC Ensembl
Innerchr14:62238300..62281033hg18UCSC Ensembl
Innerchr14:62238300..62281033hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3842734
hg1942734
hg1842734
hg1742734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704150
Samples
Known GenesKCNH5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527675
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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