A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542427



Internal ID22411504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37012987..37012987hg38UCSC Ensembl
chr6:36980763..36980763hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464975
SamplesHG00733
Known GenesFGD2
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)nsv3542427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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