A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv688n27



Internal ID22767417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8702260..8757929hg38UCSC Ensembl
chr5:8702372..8758041hg19UCSC Ensembl
chr5:8755372..8811041hg18UCSC Ensembl
chr5:8755372..8811041hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3855670
hg1955670
hg1855670
hg1755670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461932, nsv461933, nsv461936, nsv461941, nsv461942, nsv461937, nsv461938, nsv461935, nsv461940
Samples1780854558_A, 1780862071_A, NINDS_202, 1798860306_A, HGDP01273, 1788485381_A, NINDS_96, NINDS_132, HGDP00515
Known Genes
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)dgv688n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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