A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194314



Internal ID22344640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3310263..3310348hg38UCSC Ensembl
chr6:3310497..3310582hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14325902, nssv14325901
SamplesNA19239, NA19240
Known GenesSLC22A23
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194314
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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