A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4141n152



Internal ID22819844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12956300..12999405hg38UCSC Ensembl
chr19:13067114..13110219hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3843106
hg1943106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3242375, nsv3236780
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAND5, GADD45GIP1, NFIX
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4141n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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