A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525141



Internal ID301315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56626482..56683244hg38UCSC Ensembl
chr16:56660394..56717156hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856763
hg1956763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709427
Samples
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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