A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv702n27



Internal ID22767431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50692186..50762209hg38UCSC Ensembl
chr5:49988020..50058043hg19UCSC Ensembl
chr5:50023777..50093800hg18UCSC Ensembl
chr5:50023777..50093800hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3870024
hg1970024
hg1870024
hg1770024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462162, nsv462160
SamplesNINDS_142, HGDP00771
Known GenesPARP8
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)dgv702n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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