A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552617



Internal ID22421511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119132862..119132862hg38UCSC Ensembl
chr12:119570667..119570667hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381267
SamplesNA19240
Known GenesSRRM4
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)nsv3552617
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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