A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062628



Internal ID18805159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44870663..44920098hg38UCSC Ensembl
Innerchr20:43499304..43548739hg19UCSC Ensembl
Innerchr20:42932718..42982153hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3849436
hg1949436
hg1849436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584833
Samples
Known GenesPABPC1L, YWHAB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062628
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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