A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582371



Internal ID16369780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86069443..86280565hg38UCSC Ensembl
Innerchr2:86296566..86507688hg19UCSC Ensembl
Innerchr2:86150077..86361199hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38211123
hg19211123
hg18211123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6946n54
Supporting Variantsnssv913830
Samples
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582371
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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