A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416156



Internal ID22151786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109106907..109106907hg38UCSC Ensembl
chr12:109544712..109544712hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543651
Supporting Variants
SamplesHG00514
Known GenesUNG
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416156
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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