A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969316



Internal ID46866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125592816..125592867hg38UCSC Ensembl
chr6:125913962..125914013hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402235
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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