A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328282



Internal ID22261360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46734416..46734467hg38UCSC Ensembl
chr6:46702153..46702204hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204247
Supporting Variants
SamplesNA19238
Known GenesPLA2G7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14328282
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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