A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912532



Internal ID9106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39298036..39298073hg38UCSC Ensembl
chr2:39525177..39525214hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559255
Supporting Variants
Samples
Known GenesMAP4K3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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