A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530006



Internal ID306004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58007232..58043361hg38UCSC Ensembl
chr16:58041136..58077265hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3836130
hg1936130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709497
Samples
Known GenesMMP15, USB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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