A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263439



Internal ID22223238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55262376..55273432hg38UCSC Ensembl
Outerchr19:55773744..55784800hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235956
Supporting Variants
SamplesHG00733
Known GenesHSPBP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263439
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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