A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975066



Internal ID50767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134741751..134742383hg38UCSC Ensembl
chr5:134077441..134078073hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455386
Supporting Variants
Samples
Known GenesCAMLG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975066
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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