A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089451



Internal ID21998684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670576..44670576hg38UCSC Ensembl
chr12:45064359..45064359hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17599443
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089451
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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