A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257514



Internal ID22285130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26913621..26975018hg38UCSC Ensembl
Outerchr13:27487758..27549155hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245197
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257514
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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