A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049944



Internal ID21959177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102764511..102764511hg38UCSC Ensembl
chr2:103380970..103380970hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525611
Samples
Known GenesTMEM182
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049944
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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