A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200593



Internal ID22350017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43337377..43346209hg38UCSC Ensembl
chr6:43305115..43313947hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg388833
hg198833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326506, nssv14326504, nssv14326505, nssv14326503, nssv14326502
SamplesHG00512, NA19239, NA19240, HG00513, HG00514
Known GenesZNF318
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200593
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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