A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002186



Internal ID19091403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43359751..43559482hg38UCSC Ensembl
Innerchr2:43586890..43786621hg19UCSC Ensembl
Innerchr2:43440394..43640125hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38199732
hg19199732
hg18199732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581579
Samples
Known GenesTHADA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002186
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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