A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495314



Internal ID272433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20732137..20732832hg38UCSC Ensembl
chr12:20885071..20885766hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053914
Samples
Known GenesSLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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