A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966910



Internal ID45271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74699514..74700874hg38UCSC Ensembl
chr5:73995339..73996699hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469293
Supporting Variants
Samples
Known GenesHEXB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966910
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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