A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257543



Internal ID22313916
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202012
Supporting Variants
SamplesNA19240
Known GenesRAD54L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257543
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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