A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1694n152



Internal ID22817397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5903047..5953008hg38UCSC Ensembl
chr12:6012213..6062174hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3849962
hg1949962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3248633, nsv3232570
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesANO2, VWF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1694n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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