A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401754



Internal ID181130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73103290..73103341hg38UCSC Ensembl
chr11:72814335..72814386hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048297
Samples
Known GenesFCHSD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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