A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6507253



Internal ID20880541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56618054..56626343hg38UCSC Ensembl
chr16:56651966..56660255hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg388290
hg198290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177907
Samples
Known GenesMT1E, MT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6507253
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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