A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973429



Internal ID49670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122801065..122801231hg38UCSC Ensembl
chr5:122136760..122136926hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466830
Supporting Variants
Samples
Known GenesSNX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973429
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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