A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999050



Internal ID18811900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240525384..240570295hg38UCSC Ensembl
Innerchr2:241464801..241509712hg19UCSC Ensembl
Innerchr2:241113474..241158385hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844912
hg1944912
hg1844912
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586982
Samples
Known GenesANKMY1, DUSP28, RNPEPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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