A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973539



Internal ID49741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131365203..131368146hg38UCSC Ensembl
chr5:130700896..130703839hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454128
Supporting Variants
Samples
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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