A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364939



Internal ID22280598
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558911
Supporting Variants
SamplesNA19239
Known GenesPLEKHG7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364939
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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