A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556340



Internal ID329479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100562433..100562484hg38UCSC Ensembl
chr12:100956211..100956262hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690322
Samples
Known GenesNR1H4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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