A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290346



Internal ID22140549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13494661..13494819hg38UCSC Ensembl
chr18:13494660..13494818hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeOTHER complex substitution
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192806
Supporting Variants
SamplesHG00513
Known GenesLDLRAD4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Commentscomplex variant
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290346
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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