A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397616



Internal ID22455486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34542391..34544839hg38UCSC Ensembl
chr21:35914689..35917137hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg382449
hg192449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954485
Supporting Variants
Samples
Known GenesRCAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397616
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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