A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560340



Internal ID333350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29821730..29821781hg38UCSC Ensembl
chr16:29833051..29833102hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707635
Samples
Known GenesMVP, PAGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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