A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949291



Internal ID22724742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38240432..38240491hg38UCSC Ensembl
chr21:39612354..39612413hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406714
Samples
Known GenesKCNJ15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949291
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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