A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349996



Internal ID22277152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19559131..19559455hg38UCSC Ensembl
chrX:19577249..19577573hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199185
Supporting Variants
SamplesNA19239
Known GenesSH3KBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349996
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