A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998513



Internal ID19158049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221796046..221856517hg38UCSC Ensembl
Innerchr2:222660766..222721237hg19UCSC Ensembl
Innerchr2:222369010..222429481hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3860472
hg1960472
hg1860472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729360
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998513
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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