A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480317



Internal ID22538220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34097875..34099974hg38UCSC Ensembl
chr21:35470174..35472273hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884620
Supporting Variants
Samples
Known GenesMRPS6, SLC5A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480317
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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