A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256189



Internal ID22263422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6118886..6145101hg38UCSC Ensembl
Outerchr12:6228052..6254267hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382723
hg192723
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233549
Supporting Variants
SamplesNA19238
Known GenesVWF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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