A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967225



Internal ID45463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78490513..78490600hg38UCSC Ensembl
chr5:77786336..77786423hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464943
Supporting Variants
Samples
Known GenesLHFPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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