A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255990



Internal ID22144716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115696979..115704618hg38UCSC Ensembl
Outerchr12:116134784..116142423hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243994
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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