A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv871116



Internal ID6278127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100312175..100430720hg19UCSC Ensembl
Outerchr1:100302514..100446046hg19UCSC Ensembl
Innerchr1:100084763..100203308hg18UCSC Ensembl
Outerchr1:100075102..100218634hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1590295
SamplesIS38487
Known GenesAGL, SLC35A3
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv871116
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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