A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472401



Internal ID250112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42981274..43020548hg38UCSC Ensembl
chr5:42981376..43020650hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3839275
hg1939275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967673
Samples
Known GenesFLJ32255, LOC648987
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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