A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9748n54



Internal ID22777643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45364773..45470321hg38UCSC Ensembl
chr5:45364875..45470423hg19UCSC Ensembl
chr5:45400632..45506180hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38105549
hg19105549
hg18105549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597983, nsv597981, nsv597982
Samples1780862470_A
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9748n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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