A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005366



Internal ID19094583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20279098..20342373hg38UCSC Ensembl
Innerchr2:20478859..20542134hg19UCSC Ensembl
Innerchr2:20342340..20405615hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3863276
hg1963276
hg1863276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579003
Samples
Known GenesPUM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005366
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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