A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202012



Internal ID22351234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:46223976..46252311hg38UCSC Ensembl
Outerchr1:46689648..46717983hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3828336
hg1928336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257541, nssv14257543, nssv14257542
SamplesNA19238, NA19239, NA19240
Known GenesRAD54L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202012
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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