A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263335



Internal ID22134196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:36316505..36385584hg38UCSC Ensembl
Outerchr19:36807407..36876486hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3869080
hg1969080
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213690
Supporting Variants
SamplesHG00513
Known GenesLINC00665, ZFP14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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