A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006521



Internal ID18749052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129558077..129634490hg38UCSC Ensembl
Innerchr3:129276920..129353333hg19UCSC Ensembl
Innerchr3:130759610..130836023hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3876414
hg1976414
hg1876414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4859n100
Supporting Variantsnssv3603538
Samples
Known GenesPLXND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006521
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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