A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259137



Internal ID22221889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:51752367..51753015hg38UCSC Ensembl
Outerchr15:52044564..52045212hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3832811
hg1932811
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246807
Supporting Variants
SamplesHG00733
Known GenesTMOD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259137
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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