A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690434



Internal ID114100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102865819..102866765hg38UCSC Ensembl
chr12:103259597..103260543hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504626
Supporting Variants
Samples
Known GenesPAH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690434
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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