A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977106



Internal ID52130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168038624..168049597hg38UCSC Ensembl
chr5:167465629..167476602hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3810974
hg1910974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458197
Supporting Variants
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977106
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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