A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593097



Internal ID18544692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:18948815..19948012hg38UCSC Ensembl
Innerchr3:18990307..19989504hg19UCSC Ensembl
Innerchr3:18965311..19964508hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38999198
hg19999198
hg18999198
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010123
Supporting Variants
Samples
Known GenesEFHB, KCNH8, MIR4791, RAB5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593097
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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