A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058850



Internal ID19148069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44906262..44934643hg38UCSC Ensembl
Innerchr20:43534903..43563284hg19UCSC Ensembl
Innerchr20:42968317..42996698hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3828382
hg1928382
hg1828382
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584834
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)nsv1058850
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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