A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518993



Internal ID15446286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33865586..34011813hg38UCSC Ensembl
InnerchrX:33883703..34029930hg19UCSC Ensembl
InnerchrX:33793624..33939851hg18UCSC Ensembl
InnerchrX:33643360..33789587hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38146228
hg19146228
hg18146228
hg17146228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696460
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518993
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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