A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv689n27



Internal ID22767418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9896051..9933108hg38UCSC Ensembl
chr5:9896163..9933220hg19UCSC Ensembl
chr5:9949163..9986220hg18UCSC Ensembl
chr5:9949163..9986220hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3837058
hg1937058
hg1837058
hg1737058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461969, nsv461967, nsv461970, nsv461968, nsv461945
Samples1780862516_A, 1780862015_A, HGDP00620, NINDS_203, HGDP00667
Known GenesLOC285692
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)dgv689n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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