A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193299



Internal ID22343760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89200266..89203988hg38UCSC Ensembl
chr6:89909985..89913707hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg383723
hg193723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14327242, nssv14327241, nssv14327240
SamplesHG00512, HG00513, HG00514
Known GenesGABRR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193299
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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