A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180442



Internal ID20747482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84395141..84511645hg38UCSC Ensembl
chr16:84428747..84545251hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38116505
hg19116505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506253
Supporting Variants
Samples
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180442
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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