A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004828



Internal ID18747359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46829710..47587343hg38UCSC Ensembl
Innerchr2:47056849..47814482hg19UCSC Ensembl
Innerchr2:46910353..47667986hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38757634
hg19757634
hg18757634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726003
Samples
Known GenesC2orf61, CALM2, EPCAM, KCNK12, LINC01119, MCFD2, MIR559, MSH2, TTC7A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004828
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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