A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263941



Internal ID22120400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55704101..55723984hg38UCSC Ensembl
Outerchr19:56215467..56235350hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382266
hg192266
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240990
Supporting Variants
SamplesHG00512
Known GenesNLRP9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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