A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14251699



Internal ID21307134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:19441203..19508185hg38UCSC Ensembl
Outerchr5:19432683..19521246hg38UCSC Ensembl
Innerchr5:19441312..19508294hg19UCSC Ensembl
Outerchr5:19432792..19521355hg19UCSC Ensembl
Innerchr5:19477069..19544051hg18UCSC Ensembl
Outerchr5:19468549..19557112hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3888564
hg1988564
hg1888564
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169570
Supporting Variants
SamplesNGO_32
Known GenesCDH18
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14251699
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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