A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586240



Internal ID16373649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54038172hg38UCSC Ensembl
Innerchr20:52647823..52654711hg19UCSC Ensembl
Innerchr20:52081230..52088118hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941344, nssv941320, nssv941361, nssv941281, nssv941257, nssv941359, nssv941349, nssv941286, nssv941292, nssv941353, nssv941358, nssv941296, nssv941341, nssv941298, nssv941261, nssv941332, nssv941300, nssv941299, nssv941369, nssv941352, nssv941327, nssv941282, nssv941262, nssv941339, nssv941322, nssv941288, nssv941355, nssv941363, nssv941319, nssv941295, nssv941280, nssv941297, nssv941335, nssv941255, nssv941307, nssv941325, nssv941283, nssv941348, nssv941310, nssv941273, nssv941345, nssv941317, nssv941365, nssv941305, nssv941268, nssv941343, nssv941340, nssv941294, nssv941278, nssv941370, nssv941337, nssv941306, nssv941318, nssv941346, nssv941270, nssv941304, nssv941312, nssv941329, nssv941269, nssv941338, nssv941309, nssv941351, nssv941274, nssv941271, nssv941256, nssv1151370, nssv941275, nssv941357, nssv941366, nssv941328, nssv941323, nssv941367, nssv941258, nssv941364, nssv941362, nssv941336, nssv941263, nssv1151367, nssv941333, nssv941279, nssv941315, nssv941356, nssv941314, nssv941290, nssv941287, nssv941302, nssv941285, nssv941291, nssv941354, nssv941301, nssv941272, nssv941330, nssv941303, nssv941289, nssv941276, nssv941265, nssv941293, nssv941347, nssv941277, nssv941313, nssv941266, nssv941321, nssv941311, nssv941308, nssv941260, nssv941267, nssv941326, nssv941342, nssv941368, nssv941316, nssv941331, nssv941284, nssv941259, nssv941360, nssv941324, nssv941350, nssv1151369, nssv1151368, nssv941334, nssv941264
SamplesHGDP00699, 1782681263_A, HGDP00741, HGDP00671
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586240
Frequency
Sample Size17421
Observed Gain0
Observed Loss120
Observed Complex0
Frequencyn/a


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