A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054666



Internal ID104272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6427950..6476100hg38UCSC Ensembl
chr12:6537116..6585266hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3848151
hg1948151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502748
Supporting Variants
Samples
Known GenesCD27, CD27-AS1, TAPBPL, VAMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054666
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001166


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