A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710893



Internal ID134559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2091956..2094631hg38UCSC Ensembl
chr17:1995250..1997925hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520956
Supporting Variants
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710893
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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