A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974910



Internal ID50655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127044277..127044328hg38UCSC Ensembl
chr5:126379969..126380020hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560908
Supporting Variants
Samples
Known GenesC5orf63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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