A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225687



Internal ID22368746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57100642..57100700hg38UCSC Ensembl
chr12:57494425..57494483hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364215, nssv14364214
SamplesNA19238, NA19240
Known GenesSTAT6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225687
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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