A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv910n27



Internal ID22767639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:515616..526772hg38UCSC Ensembl
chr9:515616..526772hg19UCSC Ensembl
chr9:505616..516772hg18UCSC Ensembl
chr9:505616..516772hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3811157
hg1911157
hg1811157
hg1711157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466048, nsv466047, nsv466050
SamplesHGDP01202, HGDP00460, HGDP00458
Known GenesKANK1
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)dgv910n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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