A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055067



Internal ID104545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6943910..6945572hg38UCSC Ensembl
chr12:7053073..7054735hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381663
hg191663
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502634
Supporting Variants
Samples
Known GenesC12orf57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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