A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463704



Internal ID241598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160102962..160108312hg38UCSC Ensembl
chr5:159529969..159535319hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg385351
hg195351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975989
Samples
Known GenesPWWP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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