A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517164



Internal ID15097771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54030387..54044202hg38UCSC Ensembl
Innerchr20:52646926..52660741hg19UCSC Ensembl
Innerchr20:52080333..52094148hg18UCSC Ensembl
Innerchr20:52080333..52094148hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3813816
hg1913816
hg1813816
hg1713816
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688841, nssv671323, nssv692611, nssv677406, nssv686224, nssv689810, nssv658559, nssv664901, nssv680191, nssv684735, nssv654405, nssv660753, nssv671417, nssv681719, nssv683541, nssv664355, nssv682201, nssv663322, nssv678223, nssv678867, nssv653284, nssv666322, nssv693515, nssv658800, nssv689146, nssv655427, nssv660411, nssv691655, nssv673654, nssv687775, nssv657112, nssv678029, nssv684887, nssv671610, nssv662381, nssv657188, nssv670887, nssv675833, nssv688243, nssv657559, nssv665709, nssv670318, nssv683470, nssv667858, nssv688425, nssv658740, nssv659595, nssv680453, nssv655653, nssv686451, nssv663603, nssv654672, nssv689733, nssv683674, nssv676590, nssv681896, nssv692152, nssv693748, nssv662734, nssv680821, nssv688789, nssv691540, nssv688298, nssv686399, nssv690818, nssv660613, nssv667052, nssv689896, nssv669478, nssv653903, nssv683322, nssv655474, nssv663967, nssv685143, nssv655885, nssv654183, nssv674952, nssv676661, nssv687006, nssv654243, nssv651969, nssv667503, nssv691355, nssv684132, nssv664656, nssv673511, nssv675847, nssv670365, nssv676611, nssv658286, nssv691228, nssv666019, nssv687697, nssv654378, nssv681044, nssv662230, nssv689800, nssv669015, nssv662512, nssv679523, nssv681485, nssv689243, nssv683107, nssv652401, nssv687380, nssv693468, nssv690681, nssv675312, nssv664632, nssv671549, nssv673620, nssv664528, nssv666299, nssv682038, nssv684335, nssv670393, nssv654541, nssv681803, nssv685517, nssv663288, nssv679361, nssv690645, nssv662254, nssv654730, nssv680556, nssv678324, nssv663624, nssv661173, nssv665016, nssv669096, nssv660961, nssv688971, nssv676910, nssv652692, nssv667624, nssv698904, nssv674660, nssv657846, nssv705704
Samples
Known GenesBCAS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517164
Frequency
Sample Size2026
Observed Gain4
Observed Loss135
Observed Complex0
Frequencyn/a


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