A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv791n27



Internal ID22767520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167930255..168198653hg38UCSC Ensembl
chr6:168330935..168599333hg19UCSC Ensembl
chr6:168073784..168342182hg18UCSC Ensembl
chr6:168149491..168417889hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38268399
hg19268399
hg18268399
hg17268399
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464200, nsv464183, nsv464190, nsv464160, nsv464182, nsv464179, nsv464148, nsv464188, nsv464187, nsv464155, nsv464180, nsv464159, nsv464162, nsv464196, nsv464186, nsv464185, nsv464181, nsv464154, nsv464152, nsv464197, nsv464153, nsv464151, nsv464198, nsv464189, nsv464149, nsv464178
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
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)dgv791n27
Frequency
Sample Size1557
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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