A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714027



Internal ID137693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63816770..63816821hg38UCSC Ensembl
chr17:61894130..61894181hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5562638
Supporting Variants
Samples
Known GenesDDX42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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