A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9890n54



Internal ID22777785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78648180..78649165hg38UCSC Ensembl
chr5:77944003..77944988hg19UCSC Ensembl
chr5:77979759..77980744hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38986
hg19986
hg18986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598704, nsv598702, nsv598709
Samples
Known GenesLHFPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9890n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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