A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934618



Internal ID22709947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144400..5144474hg38UCSC Ensembl
chr19:5144411..5144485hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391957
Samples
Known GenesKDM4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934618
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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