A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015749



Internal ID78145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101931232..101931232hg38UCSC Ensembl
chr8:102943460..102943460hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536433
Supporting Variants
Samples
Known GenesNCALD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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