A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543053



Internal ID22412118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30664055..30664055hg38UCSC Ensembl
chrX:30682172..30682172hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404317
SamplesNA19240
Known GenesGK
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)nsv3543053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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