A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559540



Internal ID22428340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29643432..29643432hg38UCSC Ensembl
chr12:29796365..29796365hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14362409
SamplesNA19238
Known GenesTMTC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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