A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4735792



Internal ID20511735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39418036..39418769hg38UCSC Ensembl
chr21:40789962..40790695hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266081
Samples
Known GenesLCA5L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4735792
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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