A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977310



Internal ID52271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154847675..154854486hg38UCSC Ensembl
chr5:154227235..154234046hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg386812
hg196812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470629
Supporting Variants
Samples
Known GenesFAXDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977310
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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