A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488897



Internal ID22546815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41930001..41933400hg38UCSC Ensembl
chr21:43350110..43353509hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871144
Supporting Variants
Samples
Known GenesC2CD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488897
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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