A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413754



Internal ID22149087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:153542049..153542120hg38UCSC Ensembl
chrX:152807507..152807578hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194982
Supporting Variants
SamplesHG00514
Known GenesATP2B3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14413754
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