A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv732n27



Internal ID20132990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176808074..176883197hg38UCSC Ensembl
chr5:176235075..176310198hg19UCSC Ensembl
chr5:176167681..176242804hg18UCSC Ensembl
chr5:176167681..176242804hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3875124
hg1975124
hg1875124
hg1775124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462560, nsv462559
SamplesNINDS_56, NINDS_78
Known GenesHK3, UNC5A
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)dgv732n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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