A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950238



Internal ID22725644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42541718..42541795hg38UCSC Ensembl
chr21:43961828..43961905hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405082
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950238
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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