A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv946n27



Internal ID20133204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114145168..114171169hg38UCSC Ensembl
chr9:116907448..116933449hg19UCSC Ensembl
chr9:115947269..115973270hg18UCSC Ensembl
chr9:113987002..114013003hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3826002
hg1926002
hg1826002
hg1726002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466529, nsv466527
SamplesNINDS_49, HGDP00976
Known GenesCOL27A1
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)dgv946n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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