A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480306



Internal ID22538209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33163107..33166571hg38UCSC Ensembl
chr21:34535413..34538877hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383465
hg193465
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868743
Supporting Variants
Samples
Known GenesC21orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480306
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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