A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401220



Internal ID180597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73483970..73484021hg38UCSC Ensembl
chr4:74349687..74349738hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952253
Samples
Known GenesAFM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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