A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248459



Internal ID21304430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Outerchr20:47148347..47161314hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Outerchr20:45776986..45789953hg19UCSC Ensembl
Innerchr20:45213513..45222336hg18UCSC Ensembl
Outerchr20:45210393..45223360hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812968
hg1912968
hg1812968
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169667
Supporting Variants
SamplesNGO_13
Known GenesEYA2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248459
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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