A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557529



Internal ID330625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40568797..40569973hg38UCSC Ensembl
chr4:40570814..40571990hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16948908
Samples
Known GenesRBM47
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557529
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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