A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011450



Internal ID18753984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129558077..129611745hg38UCSC Ensembl
Innerchr3:129276920..129330588hg19UCSC Ensembl
Innerchr3:130759610..130813278hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3853669
hg1953669
hg1853669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4859n100
Supporting Variantsnssv3603534
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)nsv1011450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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