A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179545



Internal ID20746585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:72061101..72113500hg38UCSC Ensembl
chr16:72095000..72147399hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3852400
hg1952400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507353
Supporting Variants
Samples
Known GenesDHX38, HPR, TXNL4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179545
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.04974


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