A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690301



Internal ID15426953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:96910910..97143190hg38UCSC Ensembl
InnerchrX:96165909..96398189hg19UCSC Ensembl
InnerchrX:96052565..96284845hg18UCSC Ensembl
InnerchrX:95972054..96204334hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38232281
hg19232281
hg18232281
hg17232281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515760
Supporting Variants
Samples
Known GenesDIAPH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690301
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