A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973737



Internal ID49876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116078982..116381117hg38UCSC Ensembl
chr5:115414679..115716814hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38302136
hg19302136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463129
Supporting Variants
Samples
Known GenesCOMMD10, LOC101927190
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973737
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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