A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv829n27



Internal ID22767558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101325082..101484174hg38UCSC Ensembl
chr7:100968363..101127455hg19UCSC Ensembl
chr7:100755083..100914175hg18UCSC Ensembl
chr7:100561798..100720890hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38159093
hg19159093
hg18159093
hg17159093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv464656, nsv464657, nsv464654, nsv464655, nsv464653
SamplesHGDP01065, NINDS_195, 1780854477_A, NINDS_88, 1780854465_A
Known GenesCOL26A1
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)dgv829n27
Frequency
Sample Size1557
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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