A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528634



Internal ID15109241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:13696631..14038859hg38UCSC Ensembl
InnerchrX:13714750..14056978hg19UCSC Ensembl
InnerchrX:13624671..13966899hg18UCSC Ensembl
InnerchrX:13474407..13816635hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38342229
hg19342229
hg18342229
hg17342229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705264
Samples
Known GenesGEMIN8, GPM6B, OFD1, RAB9A, TRAPPC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528634
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