A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006229



Internal ID19095447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195350692..195747880hg38UCSC Ensembl
Innerchr3:195071421..195474751hg19UCSC Ensembl
Innerchr3:196552710..196960422hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38397189
hg19403331
hg18407713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3738467
Samples
Known GenesACAP2, APOD, MIR5692C1, MIR570, MUC20, MUC4, PPP1R2, SDHAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006229
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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