A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258136



Internal ID22192002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48936168..48977135hg38UCSC Ensembl
Outerchr14:49405371..49446338hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243095
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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