A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008722



Internal ID18751253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228871472..228892278hg38UCSC Ensembl
Innerchr2:229736188..229756994hg19UCSC Ensembl
Innerchr2:229444432..229465238hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3820807
hg1920807
hg1820807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586843, nssv3586842
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008722
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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