A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319541



Internal ID22131727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9512781..9514372hg38UCSC Ensembl
chr5:9512893..9514484hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381592
hg191592
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199793
Supporting Variants
SamplesHG00513
Known GenesSEMA5A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319541
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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