A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206765



Internal ID22355257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161181351..161186150hg38UCSC Ensembl
chr6:161602383..161607182hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14330608, nssv14330612, nssv14330609, nssv14330606, nssv14330611, nssv14330607, nssv14330605, nssv14330610, nssv14330613
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAGPAT4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206765
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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