A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528292



Internal ID8422567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48433286..49274368hg38UCSC Ensembl
InnerchrX:48291665..49130831hg19UCSC Ensembl
InnerchrX:48176609..49017775hg18UCSC Ensembl
InnerchrX:48047919..48887202hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38841083
hg19839167
hg18841167
hg17839284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
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
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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