A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473149



Internal ID250842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41041148..41042257hg38UCSC Ensembl
chr4:41043165..41044274hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947458
Samples
Known GenesAPBB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473149
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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