A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003010



Internal ID19092227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77918577..77992674hg38UCSC Ensembl
Innerchr2:78145703..78219800hg19UCSC Ensembl
Innerchr2:77999211..78073308hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3874098
hg1974098
hg1874098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582104
Samples
Known GenesSNAR-H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003010
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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