A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531535



Internal ID22400887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134959720..134959720hg38UCSC Ensembl
chrX:134093750..134093750hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467290, nssv14403310
SamplesNA19240, HG00733
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)nsv3531535
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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