A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395452



Internal ID174875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77045962..77046013hg38UCSC Ensembl
chr10:78805720..78805771hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035712
Samples
Known GenesKCNMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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