A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547934



Internal ID321729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111127919..111127919hg38UCSC Ensembl
chr5:110463617..110463617hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973662
Samples
Known GenesWDR36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547934
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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