A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324449



Internal ID22173144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154583464..154583536hg38UCSC Ensembl
chr5:153963024..153963096hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525552
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324449
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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