A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057654



Internal ID106288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56431822..56431822hg38UCSC Ensembl
chr12:56825606..56825606hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543851
Supporting Variants
Samples
Known GenesTIMELESS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002509


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