A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410236



Internal ID189553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128716655..128716655hg38UCSC Ensembl
chr7:128356709..128356709hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002583
Samples
Known GenesFAM71F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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