A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17014702



Internal ID77468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100626540..100626591hg38UCSC Ensembl
chr8:101638768..101638819hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404077
Supporting Variants
Samples
Known GenesSNX31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17014702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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