A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217861



Internal ID22363393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106727918..106728297hg38UCSC Ensembl
chr12:107121696..107122075hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365636
SamplesNA19238
Known GenesLOC100287944, RFX4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217861
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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