A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999327



Internal ID18812177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164760606..164789055hg38UCSC Ensembl
Innerchr2:165617116..165645565hg19UCSC Ensembl
Innerchr2:165325362..165353811hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3828450
hg1928450
hg1828450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4098n100
Supporting Variantsnssv3583000
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)nsv999327
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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