A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001387



Internal ID18743918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195465410..195934667hg38UCSC Ensembl
Innerchr3:195186128..195661538hg19UCSC Ensembl
Innerchr3:196667417..197145935hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38469258
hg19475411
hg18478519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611381
Samples
Known GenesAPOD, MIR5692C1, MIR570, MIR6829, MUC20, MUC4, PPP1R2, SDHAP2, TNK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001387
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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