A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010192



Internal ID18752723
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 StatusM
Merged Variantsdgv4858n100
Supporting Variantsnssv3603532
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)nsv1010192
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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