A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586245



Internal ID16026968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54041462hg38UCSC Ensembl
Innerchr20:52647823..52658001hg19UCSC Ensembl
Innerchr20:52081230..52091408hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810179
hg1910179
hg1810179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7608n54
Supporting Variantsnssv941435, nssv941404, nssv941431, nssv941410, nssv941422, nssv941447, nssv941405, nssv941400, nssv941436, nssv941426, nssv941413, nssv941437, nssv941417, nssv941442, nssv941441, nssv941423, nssv941452, nssv941414, nssv941407, nssv941446, nssv941420, nssv941432, nssv941398, nssv941425, nssv941402, nssv941439, nssv941411, nssv941434, nssv941421, nssv941418, nssv941451, nssv941440, nssv941430, nssv941433, nssv941415, nssv941429, nssv941408, nssv941449, nssv941443, nssv941448, nssv941444, nssv941424, nssv941453, nssv941450, nssv941412, nssv941401, nssv941428, nssv941406, nssv941403, nssv941427, nssv941399, nssv941409, nssv941445, nssv941454, nssv941419, nssv941416, nssv941438
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586245
Frequency
Sample Size17421
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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