A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968468



Internal ID46293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77473600..77479807hg38UCSC Ensembl
chr5:76769425..76775632hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386208
hg196208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456460
Supporting Variants
Samples
Known GenesWDR41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968468
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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