A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14327236



Internal ID22274530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884971..45884971hg38UCSC Ensembl
chr6:45852708..45852708hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564372
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14327236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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