A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711907



Internal ID135573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18359733..18359783hg38UCSC Ensembl
chr17:18263047..18263097hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38909
hg19909
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563122
Supporting Variants
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711907
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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