A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192751



Internal ID20759791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56626953..56633824hg38UCSC Ensembl
chr16:56660865..56667736hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg386872
hg196872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497437
Supporting Variants
Samples
Known GenesMT1E, MT1M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192751
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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