A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3603532



Internal ID18555127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129513290..129622888hg38UCSC Ensembl
Innerchr3:129232133..129341731hg19UCSC Ensembl
Innerchr3:130714823..130824421hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38109599
hg19109599
hg18109599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010192
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)nssv3603532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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