A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205063



Internal ID22353817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99263581..99294206hg38UCSC Ensembl
Outerchr1:99729137..99759762hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3830626
hg1930626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258828
SamplesHG00732
Known GenesLPPR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205063
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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