A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590254



Internal ID16030977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50206077..50351176hg38UCSC Ensembl
Innerchr3:50243510..50388607hg19UCSC Ensembl
Innerchr3:50218514..50363611hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38145100
hg19145098
hg18145098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8317n54
Supporting Variantsnssv963020
Samples
Known GenesCYB561D2, GNAI2, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, NPRL2, RASSF1, SEMA3B, SLC38A3, TUSC2, ZMYND10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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