A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6042700



Internal ID21952012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147861914..147861914hg38UCSC Ensembl
chr2:148619483..148619483hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520236
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6042700
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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