A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403736



Internal ID183095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38313438..38313489hg38UCSC Ensembl
chr5:38313540..38313591hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964794
Samples
Known GenesEGFLAM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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