A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145077



Internal ID344282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30422486..30428486hg38UCSC Ensembl
chr16:30433807..30439807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707683
Samples
Known GenesDCTPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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