A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054682



Internal ID104283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6530135..6530186hg38UCSC Ensembl
chr12:6639301..6639352hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432287
Supporting Variants
Samples
Known GenesNCAPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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