A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17032733



Internal ID89516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:43144635..43144686hg38UCSC Ensembl
chr10:43640083..43640134hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403355
Supporting Variants
Samples
Known GenesCSGALNACT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17032733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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