A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv36n27



Internal ID22766765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151360691..151440704hg38UCSC Ensembl
chr1:151333167..151413180hg19UCSC Ensembl
chr1:149599791..149679804hg18UCSC Ensembl
chr1:148146240..148226253hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3880014
hg1980014
hg1880014
hg1780014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv463772, nsv463761, nsv463794, nsv463839, nsv463816, nsv463783, nsv463827, nsv463805
SamplesHGDP00964, HGDP01308, HGDP01185, HGDP01311, HGDP00782, HGDP01305, HGDP00714, HGDP00127
Known GenesPOGZ, PSMB4, SELENBP1
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)dgv36n27
Frequency
Sample Size1557
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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