A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255947



Internal ID22304376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95575060..95608994hg38UCSC Ensembl
Outerchr12:95968836..96002770hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247821
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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