A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581617



Internal ID18533212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45184836..45750333hg38UCSC Ensembl
Innerchr2:45411975..45977472hg19UCSC Ensembl
Innerchr2:45265479..45830976hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38565498
hg19565498
hg18565498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011051
Supporting Variants
Samples
Known GenesLINC01121, PRKCE, SRBD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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