A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263573



Internal ID22270677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6287224..6340790hg38UCSC Ensembl
Outerchr19:6287235..6340801hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3853567
hg1953567
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220332
Supporting Variants
SamplesNA19239
Known GenesACER1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263573
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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