A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057779



Internal ID106375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55844420..55851689hg38UCSC Ensembl
chr12:56238204..56245473hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387270
hg197270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502374
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057779
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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