A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320006



Internal ID22116781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41226717..41243850hg38UCSC Ensembl
chr5:41226819..41243952hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817134
hg1917134
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526397
Supporting Variants
SamplesHG00512
Known GenesC6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320006
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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