A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6507353



Internal ID20880643
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 StatusM
Merged Variants
Supporting Variantsnssv18179545
Samples
Known GenesDHX38, HPR, TXNL4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6507353
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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