A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553347



Internal ID326602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16353380..16353400hg38UCSC Ensembl
chr17:16256694..16256714hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711780
Samples
Known GenesCENPV
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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