A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429872



Internal ID208705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28385510..28385561hg38UCSC Ensembl
chr17:26712529..26712580hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712353
Samples
Known GenesSARM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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