A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200761



Internal ID22350165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65043819..65056338hg38UCSC Ensembl
Outerchr2:65270953..65283472hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3812520
hg1912520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264715
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200761
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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