A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539892



Internal ID22409044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3961064..3961064hg38UCSC Ensembl
chrX:3879105..3879105hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg386068
hg196068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403900
SamplesNA19240
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)nsv3539892
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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