A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17532553



Internal ID21856909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241024237..241026006hg38UCSC Ensembl
chr2:241963654..241965423hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381770
hg191770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5988539
Supporting Variants
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17532553
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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