A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv871n27



Internal ID22767600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14281798..14303529hg38UCSC Ensembl
chr8:14139307..14161038hg19UCSC Ensembl
chr8:14183678..14205409hg18UCSC Ensembl
chr8:14183678..14205409hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3821732
hg1921732
hg1821732
hg1721732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465529, nsv465530
SamplesHGDP01102, NINDS_89
Known GenesSGCZ
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)dgv871n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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