A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056557



Internal ID105527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55096239..55102283hg38UCSC Ensembl
chr12:55490023..55496067hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg386045
hg196045
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147021
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056557
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001873


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