A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000073



Internal ID18742604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129501131..129611745hg38UCSC Ensembl
Innerchr3:129219974..129330588hg19UCSC Ensembl
Innerchr3:130702664..130813278hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38110615
hg19110615
hg18110615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4858n100
Supporting Variantsnssv3603530
Samples
Known GenesH1FOO, IFT122, PLXND1, RHO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000073
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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