A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3726000



Internal ID18677595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45541783..45738705hg38UCSC Ensembl
Innerchr2:45768922..45965844hg19UCSC Ensembl
Innerchr2:45622426..45819348hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38196923
hg19196923
hg18196923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013787
Supporting Variants
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)nssv3726000
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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