A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555900



Internal ID329049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43690012..43690063hg38UCSC Ensembl
chr17:41767380..41767431hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381197
hg191197
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713257
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555900
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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