A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685275



Internal ID108941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127708226..127782903hg38UCSC Ensembl
chr12:128192771..128267448hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3874678
hg1974678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500779
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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