A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987141



Internal ID21896484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195786519..196261387hg38UCSC Ensembl
chr2:196651243..197126111hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38474869
hg19474869
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524936
Samples
Known GenesDNAH7, HECW2, STK17B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987141
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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