A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243148



Internal ID22375486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14816762..14817672hg38UCSC Ensembl
chr12:14969696..14970606hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360378, nssv14360377
SamplesNA19238, NA19240
Known GenesC12orf60
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243148
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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