A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203435



Internal ID22352449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24189055..24215119hg38UCSC Ensembl
Outerchr1:24515545..24541609hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3826065
hg1926065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255005, nssv14255003, nssv14255004
SamplesNA19238, HG00513, HG00514
Known GenesLOC284632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203435
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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