A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14329189



Internal ID22278526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55143121..55143121hg38UCSC Ensembl
chr6:55007919..55007919hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564670
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14329189
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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