A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408809



Internal ID22466679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14489116..14493340hg38UCSC Ensembl
chr21:15861437..15865661hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384225
hg194225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950973
Supporting Variants
Samples
Known GenesSAMSN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408809
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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