A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528786



Internal ID6022237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119514692..119605614hg19UCSC Ensembl
InnerchrX:119398720..119489642hg18UCSC Ensembl
InnerchrX:119296574..119387496hg17UCSC Ensembl
CytobandXq24
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 Variantsnssv705454
Samples
Known GenesATP1B4, LAMP2
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)nsv528786
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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