A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv753n27



Internal ID20133011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42085013..42131633hg38UCSC Ensembl
chr6:42052751..42099371hg19UCSC Ensembl
chr6:42160729..42207349hg18UCSC Ensembl
chr6:42160729..42207349hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3846621
hg1946621
hg1846621
hg1746621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462925, nsv462926
SamplesNINDS_70, NINDS_65
Known GenesC6orf132
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)dgv753n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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