A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375949



Internal ID22208021
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232108
Supporting Variants
SamplesHG00732
Known GenesITFG1, PHKB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375949
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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