A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371548



Internal ID22150157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73951917..73952215hg38UCSC Ensembl
chr14:74418620..74418918hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527119
Supporting Variants
SamplesHG00514
Known GenesCOQ6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371548
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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