A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000685



Internal ID18743216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197832022..197975418hg38UCSC Ensembl
Innerchr3:197558893..197702289hg19UCSC Ensembl
Innerchr3:199043290..199186686hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38143397
hg19143397
hg18143397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5044n100
Supporting Variantsnssv3617026
Samples
Known GenesIQCG, LMLN, LRCH3, RPL35A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000685
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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