A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14241178



Internal ID21306242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541620..161669769hg38UCSC Ensembl
Outerchr1:161539085..161678447hg38UCSC Ensembl
Innerchr1:161511410..161639559hg19UCSC Ensembl
Outerchr1:161508875..161648237hg19UCSC Ensembl
Innerchr1:159778034..159906183hg18UCSC Ensembl
Outerchr1:159775499..159914861hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38139363
hg19139363
hg18139363
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169548
Supporting Variants
SamplesNGO_26
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14241178
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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