A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967234



Internal ID45470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78607140..78611901hg38UCSC Ensembl
chr5:77902963..77907724hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384762
hg194762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456733
Supporting Variants
Samples
Known GenesLHFPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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