A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875998



Internal ID6283009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233280565..233417552hg19UCSC Ensembl
Outerchr2:233268715..233428275hg19UCSC Ensembl
Innerchr2:232988809..233125796hg18UCSC Ensembl
Outerchr2:232976959..233136519hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1592116
SamplesIS39233
Known GenesALPI, ALPPL2, CHRND, CHRNG, ECEL1, EIF4E2, PRSS56, TIGD1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875998
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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