A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552100



Internal ID325505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10591895..10591931hg38UCSC Ensembl
chr12:10744494..10744530hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053050
Samples
Known GenesKLRAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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