A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056436



Internal ID105443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49980356..49980376hg38UCSC Ensembl
chr12:50374139..50374159hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537881
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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