A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582372



Internal ID16023095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86158605..86280565hg38UCSC Ensembl
Innerchr2:86385728..86507688hg19UCSC Ensembl
Innerchr2:86239239..86361199hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38121961
hg19121961
hg18121961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150783
Samples1780862345_A
Known GenesIMMT, MIR4779, MRPL35, REEP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582372
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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