A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057093



Internal ID105904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30694805..30694856hg38UCSC Ensembl
chr12:30847739..30847790hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424208
Supporting Variants
Samples
Known GenesIPO8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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