A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548075



Internal ID15988798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161677017..161915562hg38UCSC Ensembl
Innerchr1:161646807..161885352hg19UCSC Ensembl
Innerchr1:159913431..160151976hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38238546
hg19238546
hg18238546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173215
SamplesHGDP00864
Known GenesATF6, DUSP12, FCGR2B, FCRLA, FCRLB, RPL31P11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548075
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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