A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517015



Internal ID15097622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46093741..46095466hg38UCSC Ensembl
Innerchr2:46320880..46322605hg19UCSC Ensembl
Innerchr2:46174384..46176109hg18UCSC Ensembl
Innerchr2:46232531..46234256hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
hg171726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687134, nssv693747, nssv661106, nssv677618, nssv652512, nssv657590, nssv654540, nssv693854, nssv693209, nssv653619, nssv671373
Samples
Known GenesPRKCE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517015
Frequency
Sample Size2026
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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