A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173215



Internal ID15529894
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 StatusS
Merged Variantsnsv548075
Supporting Variants
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)nssv1173215
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer