A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008924



Internal ID18751455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86055599..86272279hg38UCSC Ensembl
Innerchr2:86282722..86499402hg19UCSC Ensembl
Innerchr2:86136233..86352913hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38216681
hg19216681
hg18216681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3885n100
Supporting Variantsnssv3582168
Samples
Known GenesIMMT, MIR4779, MRPL35, POLR1A, PTCD3, REEP1, SNORD94
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008924
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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