A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365244



Internal ID22145459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54197965..54198384hg38UCSC Ensembl
chr1:54663638..54664057hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526280
Supporting Variants
SamplesHG00514
Known GenesCYB5RL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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