A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463869



Internal ID241758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127424328..127425853hg38UCSC Ensembl
chr5:126760020..126761545hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381526
hg191526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974937
Samples
Known GenesMEGF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463869
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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