A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978785



Internal ID53242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177305559..177305616hg38UCSC Ensembl
chr5:176732560..176732617hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464909
Supporting Variants
Samples
Known GenesMXD3, PRELID1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978785
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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