A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv733n27



Internal ID18991743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177357511..177469411hg38UCSC Ensembl
chr5:176784512..176896412hg19UCSC Ensembl
chr5:176717118..176829018hg18UCSC Ensembl
chr5:176717118..176829018hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38111901
hg19111901
hg18111901
hg17111901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462563, nsv462564
Samples1780862021_A, HGDP00614
Known GenesDBN1, F12, GRK6, PFN3, PRR7, PRR7-AS1, RGS14, SLC34A1
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)dgv733n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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