A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424996



Internal ID203970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98500005..98500056hg38UCSC Ensembl
chr12:98893783..98893834hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690202
Samples
Known GenesLOC643770
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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