A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582370



Internal ID16369779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86065218..86280565hg38UCSC Ensembl
Innerchr2:86292341..86507688hg19UCSC Ensembl
Innerchr2:86145852..86361199hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38215348
hg19215348
hg18215348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6946n54
Supporting Variantsnssv1150782
SamplesNINDS_47
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)nsv582370
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer