A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10181n54



Internal ID20143605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176808074..176883197hg38UCSC Ensembl
chr5:176235075..176310198hg19UCSC Ensembl
chr5:176167681..176242804hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3875124
hg1975124
hg1875124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600351, nsv600350
SamplesNINDS_56, NINDS_78
Known GenesHK3, UNC5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10181n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer