A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971666



Internal ID22746601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56568215..56568215hg38UCSC Ensembl
chr16:56602127..56602127hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374702
Samples
Known GenesMT4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971666
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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