A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212359



Internal ID20779399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:74189282..74801973hg38UCSC Ensembl
chr4:75054999..75727183hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38612692
hg19672185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387290
Supporting Variants
Samples
Known GenesAREG, BTC, EPGN, EREG, MTHFD2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212359
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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