A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262603



Internal ID22272656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8895315..8901443hg38UCSC Ensembl
Outerchr19:9005991..9012119hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3815158
hg1915158
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231292
Supporting Variants
SamplesNA19239
Known GenesMUC16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262603
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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