A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999980



Internal ID18812830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46741757..46827326hg38UCSC Ensembl
Innerchr3:46783247..46868816hg19UCSC Ensembl
Innerchr3:46758251..46843820hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3885570
hg1985570
hg1885570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4731n100
Supporting Variantsnssv3590900, nssv3590899, nssv3590898
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)nsv999980
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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