A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982628



Internal ID21891971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216079550..216120939hg38UCSC Ensembl
chr1:216252892..216294281hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3841390
hg1941390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529263
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982628
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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