A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416091



Internal ID22151706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38854386..38854386hg38UCSC Ensembl
chr12:39248188..39248188hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3548659
Supporting Variants
SamplesHG00514
Known GenesCPNE8
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)nssv14416091
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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