A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458978



Internal ID22252752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698551..28709032hg38UCSC Ensembl
chr16:28709872..28720353hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810482
hg1910482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285613
Supporting Variants
SamplesHG00733
Known GenesEIF3C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14458978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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