A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968560



Internal ID46359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81623578..81635827hg38UCSC Ensembl
chr5:80919397..80931646hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3812250
hg1912250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463678
Supporting Variants
Samples
Known GenesSSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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