A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549077



Internal ID22418025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128814281..128814281hg38UCSC Ensembl
chr12:129298826..129298826hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444252, nssv14385790
SamplesNA19240, HG00733
Known GenesSLC15A4
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)nsv3549077
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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