A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541413



Internal ID22410519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107949724..107949724hg38UCSC Ensembl
chrX:107192954..107192954hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455961, nssv14404396
SamplesNA19240, HG00733
Known Genes
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)nsv3541413
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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