A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017899



Internal ID18760432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42510362..42586679hg38UCSC Ensembl
Innerchr8:42367880..42441822hg19UCSC Ensembl
Innerchr8:42487037..42560979hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3876318
hg1973943
hg1873943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3687264
Samples
Known GenesSLC20A2, SMIM19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017899
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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