A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003125



Internal ID18745657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161554063..161660140hg38UCSC Ensembl
Innerchr1:161523853..161629930hg19UCSC Ensembl
Innerchr1:159790477..159896554hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38106078
hg19106078
hg18106078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450n100
Supporting Variantsnssv3488104
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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