A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17035712



Internal ID91551
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 StatusS
Merged Variantsnsv5395452
Supporting Variants
Samples
Known GenesKCNMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17035712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer