A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv685n27



Internal ID22767414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:560808..618471hg38UCSC Ensembl
chr5:560923..618586hg19UCSC Ensembl
chr5:613923..671586hg18UCSC Ensembl
chr5:613923..671586hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3857664
hg1957664
hg1857664
hg1757664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461892, nsv461891
SamplesHGDP00187, HGDP00011
Known GenesCEP72, LOC100996325
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)dgv685n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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