A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv144n27



Internal ID20132402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55592737..55693312hg38UCSC Ensembl
chr11:55360213..55460788hg19UCSC Ensembl
chr11:55116789..55217364hg18UCSC Ensembl
chr11:55116789..55217364hg17UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38100576
hg19100576
hg18100576
hg17100576
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468065, nsv468197, nsv468368, nsv467970, nsv468352, nsv468407, nsv467978, nsv468376, nsv467898, nsv468143, nsv467889, nsv467892, nsv468288, nsv468298, nsv468413, nsv468499, nsv468226, nsv468210, nsv468456, nsv468213, nsv468153, nsv468119, nsv468152, nsv468445, nsv468343, nsv467984, nsv467893, nsv468379, nsv467986, nsv467890, nsv467940, nsv467895, nsv468544, nsv468214, nsv468062, nsv467891, nsv468262, nsv468137, nsv468239, nsv468102, nsv467897, nsv467956, nsv468552, nsv468274, nsv468241, nsv468337, nsv467896, nsv468070, nsv468447
SamplesHGDP00511, NINDS_247, 1780862007_A, HGDP01241, HGDP00759, HGDP00773, HGDP00769, 1780862408_A, HGDP00791, NINDS_127, HGDP00914, HGDP00736, 1780854325_A, HGDP01212, NINDS_58, HGDP01277, HGDP01021, 1780862402_A, HGDP01329, HGDP01273, 1780854294_A, HGDP01062, NINDS_256, HGDP00341, HGDP01001, 1780854129_A, HGDP01152, HGDP00917, HGDP00975, HGDP00881, HGDP01279, 1798860371_A, HGDP00372, HGDP01371, 1780862066_A, HGDP00433, HGDP01103, HGDP01018, HGDP01250, NINDS_254, HGDP00670, 1798860570_A, HGDP00727, HGDP00618, HGDP00746, NINDS_240, HGDP01157, HGDP00520, 1780862452_A
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv144n27
Frequency
Sample Size1557
Observed Gain49
Observed Loss0
Observed Complex0
Frequencyn/a


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