A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948342



Internal ID22723826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18948017..18949367hg38UCSC Ensembl
chr21:20320335..20321685hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407558
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948342
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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