A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582999



Internal ID18534594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164760606..164788035hg38UCSC Ensembl
Innerchr2:165617116..165644545hg19UCSC Ensembl
Innerchr2:165325362..165352791hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3827430
hg1927430
hg1827430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998036
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)nssv3582999
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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