A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178869



Internal ID20745909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56626482..56683243hg38UCSC Ensembl
chr16:56660394..56717155hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856762
hg1956762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507204
Supporting Variants
Samples
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1G, MT1H, MT1IP, MT1JP, MT1M, MT1X
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178869
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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