A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528292



Internal ID6019310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48291665..49130831hg19UCSC Ensembl
InnerchrX:48176609..49017775hg18UCSC Ensembl
InnerchrX:48047919..48887202hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv704866
Samples
Known GenesCACNA1F, CCDC120, CCDC22, EBP, ERAS, FOXP3, FTSJ1, GATA1, GLOD5, GPKOW, GRIPAP1, HDAC6, KCND1, MAGIX, OTUD5, PCSK1N, PIM2, PLP2, PORCN, PPP1R3F, PQBP1, PRAF2, PRICKLE3, RBM3, SLC35A2, SLC38A5, SUV39H1, SYP, TBC1D25, TFE3, TIMM17B, WAS, WDR13, WDR45
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv528292
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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