A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419502



Internal ID22477372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13378996..13380545hg38UCSC Ensembl
chr4:13380620..13382169hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg381550
hg191550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887940
Supporting Variants
Samples
Known GenesRAB28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419502
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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