A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580096



Internal ID18531691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99368087..99479909hg38UCSC Ensembl
Innerchr2:99984550..100096371hg19UCSC Ensembl
Innerchr2:99350982..99462803hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38111823
hg19111822
hg18111822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006625
Supporting Variants
Samples
Known GenesEIF5B, REV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580096
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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