A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711133



Internal ID134799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635337..6635337hg38UCSC Ensembl
chr17:6538657..6538657hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421708
Supporting Variants
Samples
Known GenesKIAA0753
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711133
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.157914


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