A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048484



Internal ID21957717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241035759..241035759hg38UCSC Ensembl
chr2:241975176..241975176hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520008
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048484
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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