A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18116332



Internal ID20683372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40838940..40841661hg38UCSC Ensembl
chr4:40840957..40843678hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382722
hg192722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389180
Supporting Variants
Samples
Known GenesAPBB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18116332
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00038


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