A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538727



Internal ID313781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41049362..41049362hg38UCSC Ensembl
chr4:41051379..41051379hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947459
Samples
Known GenesAPBB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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