A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213052



Internal ID20780092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140492201..140537400hg38UCSC Ensembl
chr4:141413355..141458554hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3845200
hg1945200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6376542
Supporting Variants
Samples
Known GenesELMOD2, LOC152586
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213052
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00071


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