A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201744



Internal ID20768784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182835001..182844400hg38UCSC Ensembl
chr1:182804136..182813535hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330076
Supporting Variants
Samples
Known GenesDHX9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201744
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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