A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964412



Internal ID18599650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:56458640..56460023hg38UCSC Ensembl
Innerchr20:55033696..55035079hg19UCSC Ensembl
Innerchr20:54467103..54468486hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381384
hg191384
hg181384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2239801, nssv2239797, nssv2239800, nssv2239802, nssv2239799, nssv2239798, nssv2239805, nssv2239806, nssv2239803, nssv2239804
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCASS4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964412
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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