A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711906



Internal ID135572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18355712..18355726hg38UCSC Ensembl
chr17:18259026..18259040hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545192
Supporting Variants
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711906
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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