A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350821



Internal ID22194097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30763212..30772685hg38UCSC Ensembl
chrX:30781329..30790802hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg389474
hg199474
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196347
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14350821
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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