A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3548477



Internal ID22417433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10623062..10623062hg38UCSC Ensembl
chr12:10775661..10775661hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14389974
SamplesNA19240
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)nsv3548477
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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