A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884800



Internal ID22659783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71515316..71553386hg38UCSC Ensembl
chr2:71742446..71780516hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3838071
hg1938071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399701
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884800
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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