A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457921



Internal ID235956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14729740..14730876hg38UCSC Ensembl
chr5:14729849..14730985hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962691
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457921
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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