A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16962691



Internal ID42439
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 StatusS
Merged Variantsnsv5457921
Supporting Variants
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16962691
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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