A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199403



Internal ID22348989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:87413608..87443977hg38UCSC Ensembl
chrX:86668611..86698980hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3830370
hg1930370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14352554, nssv14352553
SamplesHG00512, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199403
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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