A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976139



Internal ID51493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140692611..140694781hg38UCSC Ensembl
chr5:140072196..140074366hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464010
Supporting Variants
Samples
Known GenesHARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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