A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521384



Internal ID6019735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:22216767..22971444hg19UCSC Ensembl
InnerchrX:22126688..22881365hg18UCSC Ensembl
InnerchrX:21976424..22731101hg17UCSC Ensembl
CytobandXp22.11
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 Variantsnssv697994
Samples
Known GenesPHEX, ZNF645
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)nsv521384
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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