A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948137



Internal ID32789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40534077..40534261hg38UCSC Ensembl
chr4:40536094..40536278hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467021
Supporting Variants
Samples
Known GenesRBM47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948137
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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