A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965509



Internal ID44328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56178850..56178850hg38UCSC Ensembl
chr5:55474677..55474677hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534203
Supporting Variants
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.185278


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