A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200563



Internal ID22349991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44752053..44786677hg38UCSC Ensembl
Outerchr1:45217725..45252349hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3834625
hg1934625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257624
SamplesNA19238
Known GenesBEST4, KIF2C, RPS8, SNORD38A, SNORD38B, SNORD46, SNORD55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200563
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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