A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999852



Internal ID18812702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38260547..38306360hg38UCSC Ensembl
Innerchr3:38302038..38347851hg19UCSC Ensembl
Innerchr3:38277042..38322855hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3845814
hg1945814
hg1845814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589691
Samples
Known GenesSLC22A13, SLC22A14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999852
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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