A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248042



Internal ID21308722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328332..11359557hg38UCSC Ensembl
Outerchr12:11325747..11359558hg38UCSC Ensembl
Innerchr12:11481266..11512491hg19UCSC Ensembl
Outerchr12:11478681..11512492hg19UCSC Ensembl
Innerchr12:11372533..11403758hg18UCSC Ensembl
Outerchr12:11369948..11403759hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3833812
hg1933812
hg1833812
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169580
Supporting Variants
SamplesNGO_44
Known GenesPRB1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248042
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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