A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3535397



Internal ID22404645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85135735..85135735hg38UCSC Ensembl
chrX:84390741..84390741hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403421
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)nsv3535397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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