A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv891183



Internal ID6298194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90992165..91101266hg19UCSC Ensembl
Outerchr8:90975550..91111193hg19UCSC Ensembl
Innerchr8:91061341..91170442hg18UCSC Ensembl
Outerchr8:91044726..91180369hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1550458
SamplesMS18431
Known GenesCALB1, DECR1, NBN
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv891183
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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