A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555071



Internal ID22423920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123389131..123389131hg38UCSC Ensembl
chr12:123873678..123873678hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379550, nssv14415758, nssv14444087
SamplesNA19240, HG00733, HG00514
Known GenesSETD8
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)nsv3555071
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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