A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236780



Internal ID22373688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12956300..12999405hg38UCSC Ensembl
Outerchr19:13067114..13110219hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381603
hg191603
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4141n152
Supporting Variantsnssv14263777
SamplesHG00731
Known GenesDAND5, GADD45GIP1, NFIX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236780
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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