A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394826



Internal ID22452696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39418045..39418778hg38UCSC Ensembl
chr21:40789971..40790704hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950262
Supporting Variants
Samples
Known GenesLCA5L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394826
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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