A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552172



Internal ID22421071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55722264..55722264hg38UCSC Ensembl
chr8:56634823..56634823hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14402374
SamplesNA19240
Known Genes
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)nsv3552172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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