A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243087



Internal ID21309303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172653533..172735933hg38UCSC Ensembl
Outerchr5:172645840..172739256hg38UCSC Ensembl
Innerchr5:172080536..172162936hg19UCSC Ensembl
Outerchr5:172072843..172166259hg19UCSC Ensembl
Innerchr5:172013141..172095541hg18UCSC Ensembl
Outerchr5:172005448..172098864hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3893417
hg1993417
hg1893417
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169942
Supporting Variants
SamplesNGO_49
Known GenesNEURL1B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243087
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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