A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684012



Internal ID107678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88226128..88234128hg38UCSC Ensembl
chr12:88619905..88627905hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143838
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684012
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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