A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562638



Internal ID335584
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 StatusM
Merged Variants
Supporting Variantsnssv17714027
Samples
Known GenesDDX42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562638
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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