A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010820



Internal ID18753352
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 StatusM
Merged Variantsdgv4099n100
Supporting Variantsnssv3729268, nssv3583001
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)nsv1010820
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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