A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416467



Internal ID22152189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10644725..10644725hg38UCSC Ensembl
chr12:10797324..10797324hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555497
Supporting Variants
SamplesHG00514
Known GenesSTYK1
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)nssv14416467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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