A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402217



Internal ID181588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215623208..215623259hg38UCSC Ensembl
chr1:215796550..215796601hg19UCSC Ensembl
Cytoband1q41
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 Variantsnssv16896680
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402217
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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