A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417148



Internal ID196353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62036498..62036549hg38UCSC Ensembl
chr17:60113859..60113910hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724988
Samples
Known GenesMED13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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