A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232108



Internal ID22372427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47185288..47681272hg38UCSC Ensembl
chr16:47219199..47715183hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38495985
hg19495985
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377283, nssv14375949, nssv14388132
SamplesHG00731, HG00732, HG00733
Known GenesITFG1, PHKB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232108
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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