A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391957



Internal ID22449827
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 StatusS
Merged Variantsnsv5934618
Supporting Variants
Samples
Known GenesKDM4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391957
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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