A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590256



Internal ID16030979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50232733..50383123hg38UCSC Ensembl
Innerchr3:50270165..50420554hg19UCSC Ensembl
Innerchr3:50245169..50395558hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38150391
hg19150390
hg18150390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8317n54
Supporting Variantsnssv963021
Samples
Known GenesCACNA2D2, CYB561D2, GNAI2, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, TMEM115, TUSC2, ZMYND10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590256
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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