A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688648



Internal ID112314
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 StatusS
Merged Variantsnsv5432304
Supporting Variants
Samples
Known GenesFLJ41278
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688648
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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