A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583001



Internal ID18534596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164771494..164882504hg38UCSC Ensembl
Innerchr2:165628004..165739014hg19UCSC Ensembl
Innerchr2:165336250..165447260hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38111011
hg19111011
hg18111011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010820
Supporting Variants
Samples
Known GenesCOBLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583001
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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