A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259568



Internal ID22256359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:51538121..51555478hg38UCSC Ensembl
Outerchr15:51830318..51847675hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231868
Supporting Variants
SamplesNA19238
Known GenesDMXL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259568
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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