A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516442



Internal ID6014746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45899962..45983385hg19UCSC Ensembl
Innerchr11:45856538..45939961hg18UCSC Ensembl
Innerchr11:45856538..45939961hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv682952, nssv675721, nssv668447, nssv692112, nssv655354, nssv670466, nssv679215, nssv655057, nssv657130, nssv691218, nssv682694, nssv679890, nssv690191, nssv663772, nssv660449
Samples
Known GenesC11orf94, CRY2, GYLTL1B, MAPK8IP1, PEX16, PHF21A
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516442
Frequency
Sample Size2026
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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