A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544484



Internal ID318624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62621868..62621890hg38UCSC Ensembl
chr17:60699229..60699251hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713943
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544484
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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