A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256205



Internal ID22268679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6882174..6885583hg38UCSC Ensembl
Outerchr12:6991338..6994747hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381523
hg191523
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243524
Supporting Variants
SamplesNA19238
Known GenesDSTNP2, RPL13P5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256205
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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