A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531471



Internal ID22400824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147269931..147269931hg38UCSC Ensembl
chrX:146351449..146351449hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg385754
hg195754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462769
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3531471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer