A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6050518



Internal ID21959751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126644913..126644913hg38UCSC Ensembl
chr2:127402489..127402489hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533323
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6050518
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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