A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6104217



Internal ID22013450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40620228..40620228hg38UCSC Ensembl
chr21:41992154..41992154hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17643688
Samples
Known GenesDSCAM, DSCAM-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6104217
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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