A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210202



Internal ID20777242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119504058..119773538hg38UCSC Ensembl
chr4:120425213..120694693hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38269481
hg19269481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6384813
Supporting Variants
Samples
Known GenesPDE5A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210202
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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