A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495340



Internal ID272458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69248463..69248952hg38UCSC Ensembl
chr12:69642243..69642732hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688868
Samples
Known GenesCPSF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495340
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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