A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv686n27



Internal ID22767415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1009968..1097166hg38UCSC Ensembl
chr5:1010083..1097281hg19UCSC Ensembl
chr5:1063083..1150281hg18UCSC Ensembl
chr5:1063083..1150281hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3887199
hg1987199
hg1887199
hg1787199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461897, nsv461898
SamplesHGDP00545, HGDP00602
Known GenesMIR4635, NKD2, SLC12A7
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)dgv686n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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