A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986256



Internal ID21895599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148106318..148190547hg38UCSC Ensembl
chr2:148863887..148948116hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3884230
hg1984230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534576
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986256
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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