A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480294



Internal ID22538197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30615869..30617814hg38UCSC Ensembl
chr21:31988188..31990133hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381946
hg191946
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870237
Supporting Variants
Samples
Known GenesKRTAP20-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480294
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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