A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875846



Internal ID6282857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217285407..217326879hg19UCSC Ensembl
Outerchr2:217278023..217329184hg19UCSC Ensembl
Innerchr2:216993652..217035124hg18UCSC Ensembl
Outerchr2:216986268..217037429hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1527760
SamplesSP80968
Known GenesSMARCAL1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875846
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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