A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432304



Internal ID211051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64893689..64893740hg38UCSC Ensembl
chr12:65287469..65287520hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688648
Samples
Known GenesFLJ41278
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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