A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700314



Internal ID15090280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73958235..74023032hg38UCSC Ensembl
Innerchr14:74424938..74489735hg19UCSC Ensembl
Innerchr14:73494691..73559488hg18UCSC Ensembl
Innerchr14:73494691..73559488hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3864798
hg1964798
hg1864798
hg1764798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524396
Supporting Variants
Samples
Known GenesCCDC176, COQ6, ENTPD5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700314
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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