A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4809n54



Internal ID20138233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:322597..451362hg38UCSC Ensembl
chr16:372597..501362hg19UCSC Ensembl
chr16:312598..441363hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38128766
hg19128766
hg18128766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv570955, nsv570953
Samples
Known GenesAXIN1, DECR2, LOC100134368, MRPL28, NME4, RAB11FIP3, TMEM8A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4809n54
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