A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971964



Internal ID48666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112771705..112771817hg38UCSC Ensembl
chr5:112107402..112107514hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458971
Supporting Variants
Samples
Known GenesAPC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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