A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005585



Internal ID18748116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46741757..46807779hg38UCSC Ensembl
Innerchr3:46783247..46849269hg19UCSC Ensembl
Innerchr3:46758251..46824273hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3866023
hg1966023
hg1866023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4730n100
Supporting Variantsnssv3590874
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)nsv1005585
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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