A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908867



Internal ID6703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109356599..109356650hg38UCSC Ensembl
chr1:109899221..109899272hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400762
Supporting Variants
Samples
Known GenesSORT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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