A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488867



Internal ID22546785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36959569..36962568hg38UCSC Ensembl
chr21:38331869..38334868hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870517
Supporting Variants
Samples
Known GenesHLCS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488867
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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