A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014865



Internal ID18757400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129547870..129622888hg38UCSC Ensembl
Innerchr3:129266713..129341731hg19UCSC Ensembl
Innerchr3:130749403..130824421hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3875019
hg1975019
hg1875019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4859n100
Supporting Variantsnssv3603533
Samples
Known GenesH1FOO, PLXND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014865
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer