A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4738683



Internal ID20514654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:19274216..19274322hg38UCSC Ensembl
chr20:19254860..19254966hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295606
Samples
Known GenesLOC100130264, SLC24A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4738683
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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