A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv874292



Internal ID6281303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74901602..75051823hg19UCSC Ensembl
Outerchr2:74895348..75064392hg19UCSC Ensembl
Innerchr2:74755110..74905331hg18UCSC Ensembl
Outerchr2:74748856..74917900hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530185
SamplesMS10228
Known GenesHK2, SEMA4F
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv874292
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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