A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11062n54



Internal ID22778957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167905802..168219991hg38UCSC Ensembl
chr6:168306482..168620671hg19UCSC Ensembl
chr6:168049331..168363520hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38314190
hg19314190
hg18314190
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605372, nsv605369, nsv605430, nsv605412, nsv605410, nsv605429, nsv605390, nsv605395, nsv605415, nsv605413, nsv605368, nsv605381, nsv605434, nsv605367, nsv605419, nsv605392, nsv605408, nsv605382, nsv605384, nsv605417, nsv605431, nsv605380, nsv605375, nsv605370, nsv605411, nsv605404, nsv605385, nsv605424, nsv605379, nsv605416, nsv605406, nsv605373, nsv605371, nsv605374, nsv605383, nsv605386, nsv605377, nsv605437, nsv605388, nsv605439, nsv605428, nsv605376, nsv605407, nsv605387, nsv605401, nsv605422, nsv605435, nsv605391, nsv605418, nsv605433, nsv605421, nsv605420, nsv605436, nsv605378, nsv605427, nsv605394, nsv605425, nsv605402, nsv605403, nsv605432, nsv605414, nsv605423, nsv605440, nsv605438, nsv605389, nsv605426, nsv605405
SamplesHGDP00644, 1780854556_A, 1780854231_A, NINDS_103, 1782681236_A, 1780854318_A, NINDS_195, 1780862246_A, 1780854326_A, 1798860592_A, 1780854417_A, 1787431198_A, 1780862419_A, 1780854444_A, NINDS_256, 1780862557_A, NINDS_218, HGDP01373, NINDS_184, NINDS_33, 1780862334_A, 1780854486_A, 1780862587_A, HGDP00669, 1780854393_A, 1780846005_A
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11062n54
Frequency
Sample Size17421
Observed Gain173
Observed Loss0
Observed Complex0
Frequencyn/a


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