A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255914



Internal ID22327689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54745122..54774909hg38UCSC Ensembl
Outerchr12:55138906..55168693hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg383543
hg193543
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247301
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255914
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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