A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964410



Internal ID18599648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53419844..53421565hg38UCSC Ensembl
Innerchr20:52036383..52038104hg19UCSC Ensembl
Innerchr20:51469790..51471511hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381722
hg191722
hg181722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2240582, nssv2240577, nssv2240578, nssv2240576, nssv2240580, nssv2240581, nssv2240574, nssv2240573, nssv2240575, nssv2240579
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTSHZ2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964410
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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