A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194040



Internal ID22344411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4759931..4760373hg38UCSC Ensembl
chr6:4760165..4760607hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14326562
SamplesHG00731
Known GenesCDYL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194040
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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