A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470580



Internal ID248335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41421814..41450588hg38UCSC Ensembl
chr4:41423831..41452605hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3828775
hg1928775
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949561
Samples
Known GenesLIMCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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