A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262525



Internal ID22263388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40317333..40323299hg38UCSC Ensembl
Outerchr19:40823240..40829206hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385967
hg195967
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214237
Supporting Variants
SamplesNA19238
Known GenesC19orf47
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262525
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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