A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14360264



Internal ID22129376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12050813..12050813hg38UCSC Ensembl
chr12:12203747..12203747hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559519
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14360264
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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