A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008059



Internal ID19097278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130067085..130100759hg38UCSC Ensembl
Innerchr3:129785928..129819602hg19UCSC Ensembl
Innerchr3:131268618..131302292hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3833675
hg1933675
hg1833675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4891n100
Supporting Variantsnssv3606827
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008059
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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