A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011307



Internal ID19100524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197843263..198107687hg38UCSC Ensembl
Innerchr3:197570134..197834558hg19UCSC Ensembl
Innerchr3:199054531..199318955hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38264425
hg19264425
hg18264425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5045n100
Supporting Variantsnssv3617028
Samples
Known GenesANKRD18DP, IQCG, 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)nsv1011307
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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