A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967683



Internal ID45764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43041032..43041083hg38UCSC Ensembl
chr5:43041134..43041185hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459503
Supporting Variants
Samples
Known GenesLOC648987
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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