A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009586



Internal ID18752117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47325567..47394348hg38UCSC Ensembl
Innerchr2:47552706..47621487hg19UCSC Ensembl
Innerchr2:47406210..47474991hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3868782
hg1968782
hg1868782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581634
Samples
Known GenesEPCAM, MIR559
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009586
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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