A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14327347



Internal ID22290838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:91679325..91679325hg38UCSC Ensembl
chr6:92389043..92389043hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564698
Supporting Variants
SamplesNA19240
Known GenesCASC6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14327347
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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