A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4421n152



Internal ID22820124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1572204..1605446hg38UCSC Ensembl
chr2:1575976..1609218hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3833243
hg1933243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229203, nsv3210776
SamplesHG00512, NA19238, HG00731, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4421n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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