A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965854



Internal ID18254398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9168918..9170262hg38UCSC Ensembl
Innerchr20:9149565..9150909hg19UCSC Ensembl
Innerchr20:9097565..9098909hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381345
hg191345
hg181345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2229555, nssv2229551, nssv2229554, nssv2229549, nssv2229552, nssv2229548, nssv2229547, nssv2229553, nssv2229550, nssv2229546
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPLCB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965854
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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