A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580095



Internal ID18531690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99364388..99481422hg38UCSC Ensembl
Innerchr2:99980851..100097884hg19UCSC Ensembl
Innerchr2:99347283..99464316hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38117035
hg19117034
hg18117034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014604
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)nssv3580095
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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