A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948938



Internal ID33311
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 Variantsnsv5467528
Supporting Variants
Samples
Known GenesAPBB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948938
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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