A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362409



Internal ID22261755
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559540
Supporting Variants
SamplesNA19238
Known GenesTMTC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362409
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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