A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488477



Internal ID22546394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29004265..29012712hg38UCSC Ensembl
chr21:30376586..30385033hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg388448
hg198448
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878999
Supporting Variants
Samples
Known GenesRWDD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488477
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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