A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964405



Internal ID18599643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48484214..48520018hg38UCSC Ensembl
Innerchr20:47112460..47136556hg19UCSC Ensembl
Innerchr20:46545867..46569963hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3835805
hg1924097
hg1824097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2236942, nssv2236937, nssv2236935, nssv2236933, nssv2236938, nssv2236934, nssv2236941, nssv2236940, nssv2236939, nssv2236936
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964405
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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