A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212327



Internal ID22359614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12581279..12621231hg38UCSC Ensembl
Outerchr19:12692093..12732045hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3839953
hg1939953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4139n152
Supporting Variantsnssv14263318
SamplesHG00512
Known GenesZNF490, ZNF791
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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