A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6853n152



Internal ID22822556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:134499741..134545810hg38UCSC Ensembl
chr4:135420896..135466965hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3846070
hg1946070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3204558, nsv3210040
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6853n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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