A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048955



Internal ID21958189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17522482..17522482hg38UCSC Ensembl
chr2:17703749..17703749hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518950
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048955
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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