A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945243



Internal ID22720717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87423850..87424804hg38UCSC Ensembl
chr16:87457456..87458410hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38955
hg19955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374225
Samples
Known GenesZCCHC14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945243
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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