A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428191



Internal ID22486061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128145278..128145426hg38UCSC Ensembl
chr4:129066433..129066581hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893012
Supporting Variants
Samples
Known GenesLARP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428191
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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