A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049483



Internal ID19138702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78309406..78373529hg38UCSC Ensembl
Innerchr11:78020452..78084575hg19UCSC Ensembl
Innerchr11:77698100..77762223hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3864124
hg1964124
hg1864124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1235n100
Supporting Variantsnssv3710666
Samples
Known GenesGAB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049483
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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