A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194506



Internal ID22344812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57230997..57231279hg38UCSC Ensembl
chr3:57265025..57265307hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305890, nssv14305889
SamplesNA19238, HG00733
Known GenesAPPL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194506
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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