A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263975



Internal ID22223401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1136571..1203281hg38UCSC Ensembl
Outerchr19:1136570..1203280hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386226
hg196226
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246610
Supporting Variants
SamplesHG00733
Known GenesSBNO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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