A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407295



Internal ID186629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95363607..95363607hg38UCSC Ensembl
chr7:94992919..94992919hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999710
Samples
Known GenesPON3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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