A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204247



Internal ID22353127
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7883n152
Supporting Variantsnssv14328284, nssv14328283, nssv14328282
SamplesNA19238, NA19239, NA19240
Known GenesPLA2G7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204247
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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