A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14323171



Internal ID22127345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67515246..67515501hg38UCSC Ensembl
chr5:66811074..66811329hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526898
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14323171
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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