A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263519



Internal ID22284691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52379664..52391827hg38UCSC Ensembl
Outerchr19:52882917..52895080hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3812164
hg1912164
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224645
Supporting Variants
SamplesNA19239
Known GenesZNF880
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263519
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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