A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957952



Internal ID22733039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37717340..37717389hg38UCSC Ensembl
chr21:39089643..39089692hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402777
Samples
Known GenesKCNJ6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957952
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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