A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000942



Internal ID19090159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45106843..45123186hg38UCSC Ensembl
Innerchr2:45333982..45350325hg19UCSC Ensembl
Innerchr2:45187486..45203829hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3816344
hg1916344
hg1816344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3803n100
Supporting Variantsnssv3725996
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)nsv1000942
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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