A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4855n54



Internal ID18997031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1577507..1694025hg38UCSC Ensembl
chr16:1627508..1744026hg19UCSC Ensembl
chr16:1567509..1684027hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38116519
hg19116519
hg18116519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571165, nsv571166
Samples
Known GenesCRAMP1L, HN1L, IFT140
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4855n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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