A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688930



Internal ID112596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70395155..70395206hg38UCSC Ensembl
chr12:70788935..70788986hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418055
Supporting Variants
Samples
Known GenesKCNMB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.097565


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