A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062742



Internal ID18805273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:25090818..25494993hg38UCSC Ensembl
Innerchr20:25071454..25475629hg19UCSC Ensembl
Innerchr20:25019454..25423629hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38404176
hg19404176
hg18404176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4290n100
Supporting Variantsnssv3584680
Samples
Known GenesABHD12, ENTPD6, GINS1, LOC284798, NINL, PYGB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062742
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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