A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263766



Internal ID22145862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38542209..38574784hg38UCSC Ensembl
Outerchr19:39032849..39065424hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3814483
hg1914483
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236200
Supporting Variants
SamplesHG00514
Known GenesRYR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263766
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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