A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248026



Internal ID21312813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80197495..80257174hg38UCSC Ensembl
Innerchr18:77955378..78015057hg19UCSC Ensembl
Innerchr18:76056369..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3859680
hg1959680
hg1863597
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169431
Supporting Variants
SamplesSNI_5
Known GenesPARD6G
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248026
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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