A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517994



Internal ID15098601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:154082978..154115553hg38UCSC Ensembl
InnerchrX:153348431..153381023hg19UCSC Ensembl
InnerchrX:153001625..153034217hg18UCSC Ensembl
InnerchrX:152869278..152901870hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3832576
hg1932593
hg1832593
hg1732593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695407
Samples
Known GenesMECP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517994
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