A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207624



Internal ID22355982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65552811..65564763hg38UCSC Ensembl
Outerchr1:66018494..66030446hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3811953
hg1911953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253846, nssv14253847
SamplesNA19239, HG00732
Known GenesLEPR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207624
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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