A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214416



Internal ID20781456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99402129..99452942hg38UCSC Ensembl
chr4:100323286..100374099hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3850814
hg1950814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387210
Supporting Variants
Samples
Known GenesADH7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214416
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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