A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558911



Internal ID22427716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92745376..92748339hg38UCSC Ensembl
chr12:93139152..93142115hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382964
hg192964
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364939, nssv14364940
SamplesNA19239, NA19240
Known GenesPLEKHG7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558911
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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