A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176322



Internal ID15855297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84079772..84366825hg38UCSC Ensembl
Innerchr12:84473551..84760604hg19UCSC Ensembl
Innerchr12:82997682..83284735hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38287054
hg19287054
hg18287054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559574
Supporting Variants
Samples1780862540_A
Known GenesMIR548T
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176322
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