A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711028



Internal ID134694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5083045..5083082hg38UCSC Ensembl
chr17:4986340..4986377hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554013
Supporting Variants
Samples
Known GenesZFP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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