A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243470



Internal ID21305331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9709482..9722328hg38UCSC Ensembl
Outerchr12:9707274..9726488hg38UCSC Ensembl
Innerchr12:9862078..9874924hg19UCSC Ensembl
Outerchr12:9859870..9879084hg19UCSC Ensembl
Innerchr12:9753345..9766191hg18UCSC Ensembl
Outerchr12:9751137..9770351hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819215
hg1919215
hg1819215
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170172
Supporting Variants
SamplesNGO_2
Known GenesCLECL1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243470
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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