A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998852



Internal ID18811702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45419685..46135538hg38UCSC Ensembl
Innerchr2:45646824..46362677hg19UCSC Ensembl
Innerchr2:45500328..46216181hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38715854
hg19715854
hg18715854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725999
Samples
Known GenesPRKCE, SRBD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998852
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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