A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997563



Internal ID18810413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86054844..86279009hg38UCSC Ensembl
Innerchr2:86281967..86506132hg19UCSC Ensembl
Innerchr2:86135478..86359643hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38224166
hg19224166
hg18224166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3885n100
Supporting Variantsnssv3582167, nssv3732026
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)nsv997563
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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