A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262487



Internal ID22263165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21719134..21744603hg38UCSC Ensembl
Outerchr19:21901936..21927405hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3825470
hg1925470
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211922
Supporting Variants
SamplesNA19238
Known GenesZNF100
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262487
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer