A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219120



Internal ID22364243
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263572, nssv14263571, nssv14263325
SamplesNA19239, NA19240, HG00513
Known GenesCSNK1G2, CSNK1G2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219120
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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