A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525487



Internal ID6016942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:175400104..175470867hg19UCSC Ensembl
Innerchr4:175636679..175707442hg18UCSC Ensembl
Innerchr4:175774834..175845597hg17UCSC Ensembl
Cytoband4q34.1
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 Variantsnssv701616
Samples
Known GenesHPGD
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)nsv525487
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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