A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061984



Internal ID19151203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42790226..43038667hg38UCSC Ensembl
Innerchr19:43294378..43542819hg19UCSC Ensembl
Innerchr19:47986218..48234659hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38248442
hg19248442
hg18248442
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3565n100
Supporting Variantsnssv3572429, nssv3569472, nssv3572418, nssv3569473, nssv3722937, nssv3722926, nssv3569478, nssv3722947, nssv3572403, nssv3572398, nssv3722938, nssv3569464, nssv3569474, nssv3572427, nssv3722963, nssv3572399, nssv3569466, nssv3572412, nssv3572407, nssv3572413, nssv3722953, nssv3572397, nssv3572394, nssv3722954, nssv3572411, nssv3569467, nssv3722924, nssv3572390, nssv3572392, nssv3722930, nssv3572401, nssv3722945, nssv3572428, nssv3572396, nssv3572387, nssv3722966, nssv3722931, nssv3572406, nssv3572415, nssv3722965, nssv3722939, nssv3722929, nssv3572404, nssv3569468, nssv3572400, nssv3572421, nssv3722922, nssv3569479, nssv3722943, nssv3722941, nssv3722936, nssv3722949, nssv3572419, nssv3722955, nssv3722952, nssv3572414, nssv3569476, nssv3722925, nssv3572408, nssv3722932, nssv3569463, nssv3572388, nssv3722951, nssv3722948, nssv3572391, nssv3722961, nssv3722944, nssv3569470, nssv3572402, nssv3572420, nssv3572422, nssv3569469, nssv3722958, nssv3569465, nssv3572425, nssv3572426, nssv3569475, nssv3572417, nssv3572405, nssv3722956, nssv3722927, nssv3569477, nssv3722964, nssv3722933, nssv3572395, nssv3572410, nssv3572424, nssv3572393, nssv3722928, nssv3722960, nssv3569480, nssv3572416, nssv3722942, nssv3722934, nssv3722957, nssv3722946, nssv3722950, nssv3722935, nssv3572409, nssv3722959, nssv3722923, nssv3572389, nssv3722940, nssv3572423, nssv3569471, nssv3722962
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061984
Frequency
Sample Size11257
Observed Gain6
Observed Loss100
Observed Complex0
Frequencyn/a


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