A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194426



Internal ID22344742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123323070..123323122hg38UCSC Ensembl
chr4:124244225..124244277hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317135, nssv14317134
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194426
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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