A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263571



Internal ID22270145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1948944..1955099hg38UCSC Ensembl
Outerchr19:1948943..1955098hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386156
hg196156
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219120
Supporting Variants
SamplesNA19239
Known GenesCSNK1G2, CSNK1G2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263571
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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