A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6090763



Internal ID21999996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51996731..51996731hg38UCSC Ensembl
chr12:52390515..52390515hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610272
Samples
Known GenesACVR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6090763
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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