A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6052530



Internal ID21961763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113979962..113979962hg38UCSC Ensembl
chr2:114737539..114737539hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528748
Samples
Known GenesLOC100499194, LOC440900
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6052530
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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