A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8326n54



Internal ID20141750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52501570..52538040hg38UCSC Ensembl
chr3:52535586..52572056hg19UCSC Ensembl
chr3:52510626..52547096hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3836471
hg1936471
hg1836471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590307, nsv590305
Samples
Known GenesNT5DC2, SMIM4, STAB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8326n54
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