A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276318



Internal ID22198620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:37825745..37826533hg38UCSC Ensembl
Outerchr5:37825847..37826635hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3813476
hg1913476
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222122
Supporting Variants
SamplesHG00732
Known GenesGDNF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276318
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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