A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539596



Internal ID22408753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70168176..70168176hg38UCSC Ensembl
chrX:69388026..69388026hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14430774
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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