A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533529



Internal ID22402834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30664021..30664021hg38UCSC Ensembl
chrX:30682138..30682138hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14466416
SamplesHG00733
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)nsv3533529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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