A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555232



Internal ID328394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26936019..26936054hg38UCSC Ensembl
chr12:27088952..27088987hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055494
Samples
Known GenesASUN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555232
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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