A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8316n54



Internal ID20141740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50115923..50299991hg38UCSC Ensembl
chr3:50153356..50337422hg19UCSC Ensembl
chr3:50128360..50312426hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38184069
hg19184067
hg18184067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590253, nsv590250, nsv590251, nsv590252
SamplesNINDS_201, NINDS_49
Known GenesGNAI2, GNAT1, HYAL1, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, RBM5, SEMA3B, SEMA3F, SLC38A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8316n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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