A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526344



Internal ID6020115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55522488..56231119hg19UCSC Ensembl
Innerchr4:55217245..55925876hg18UCSC Ensembl
Innerchr4:55363416..56072047hg17UCSC Ensembl
Cytoband4q12
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 Variantsnssv702636
Samples
Known GenesKDR, KIT, SRD5A3
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)nsv526344
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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