A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965512



Internal ID44330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56189774..56197613hg38UCSC Ensembl
chr5:55485601..55493440hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387840
hg197840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460774
Supporting Variants
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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