A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974284



Internal ID50227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129759768..129759799hg38UCSC Ensembl
chr5:129095461..129095492hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553869
Supporting Variants
Samples
Known GenesKIAA1024L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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