A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558163



Internal ID331235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62820554..62820576hg38UCSC Ensembl
chr17:60897915..60897937hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713955
Samples
Known GenesMIR548W
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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