A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976703



Internal ID51856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172070551..172070602hg38UCSC Ensembl
chr5:171497555..171497606hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403832
Supporting Variants
Samples
Known GenesSTK10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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