A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001361



Internal ID19090578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238911116..238943769hg38UCSC Ensembl
Innerchr2:239832812..239865465hg19UCSC Ensembl
Innerchr2:239497749..239530402hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3832654
hg1932654
hg1832654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4194n100
Supporting Variantsnssv3586963, nssv3586964
Samples
Known GenesFLJ43879
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001361
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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