A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948130



Internal ID32783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40502904..40566375hg38UCSC Ensembl
chr4:40504921..40568392hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3863472
hg1963472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459897
Supporting Variants
Samples
Known GenesRBM47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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