A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710006



Internal ID133672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2683284..2683335hg38UCSC Ensembl
chr17:2586578..2586629hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415716
Supporting Variants
Samples
Known GenesPAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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