A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258021



Internal ID22260353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105461495..105480272hg38UCSC Ensembl
Outerchr14:105927832..105946609hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245844
Supporting Variants
SamplesNA19238
Known GenesCRIP2, MTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258021
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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