A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv876000



Internal ID6283011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233309548..233523075hg19UCSC Ensembl
Outerchr2:233303133..233533202hg19UCSC Ensembl
Innerchr2:233017792..233231319hg18UCSC Ensembl
Outerchr2:233011377..233241446hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1544079
SamplesMS16242
Known GenesALPI, CHRND, CHRNG, ECEL1, EFHD1, EIF4E2, PRSS56, TIGD1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv876000
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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