A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516442



Internal ID8410717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45878411..45961834hg38UCSC Ensembl
Innerchr11:45899962..45983385hg19UCSC Ensembl
Innerchr11:45856538..45939961hg18UCSC Ensembl
Innerchr11:45856538..45939961hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3883424
hg1983424
hg1883424
hg1783424
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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