A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210281



Internal ID20777321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126146601..126150400hg38UCSC Ensembl
chr4:127067756..127071555hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6385966
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210281
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00224


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