A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529088



Internal ID305125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57491431..57499617hg38UCSC Ensembl
chr17:55568792..55576978hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg388187
hg198187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724860
Samples
Known GenesMSI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529088
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer