A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3603530



Internal ID18555125
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 StatusS
Merged Variantsnsv1000073
Supporting Variants
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)nssv3603530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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