A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209240



Internal ID22357349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53301966..53302518hg38UCSC Ensembl
chr1:53767638..53768190hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363771
SamplesHG00731
Known GenesLRP8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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