A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998036



Internal ID18810886
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 StatusM
Merged Variantsdgv4098n100
Supporting Variantsnssv3582999, nssv3582998
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)nsv998036
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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