A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907249



Internal ID5618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70885144..70885195hg38UCSC Ensembl
chr1:71350827..71350878hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407470
Supporting Variants
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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