A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008289



Internal ID18750820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46741757..46808087hg38UCSC Ensembl
Innerchr3:46783247..46849577hg19UCSC Ensembl
Innerchr3:46758251..46824581hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3866331
hg1966331
hg1866331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4730n100
Supporting Variantsnssv3590890, nssv3590882, nssv3590893, nssv3590897, nssv3590879, nssv3590894, nssv3590885, nssv3590896, nssv3590876, nssv3590886, nssv3590889, nssv3590881, nssv3590891, nssv3590895, nssv3590887, nssv3590883, nssv3590878, nssv3590877, nssv3590892, nssv3590875, nssv3590888, nssv3590880, nssv3590884
Samples
Known GenesPRSS45
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008289
Frequency
Sample Size29084
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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