A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029046



Internal ID18771578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61311782..61622718hg38UCSC Ensembl
Innerchr8:62224341..62535277hg19UCSC Ensembl
Innerchr8:62386895..62697831hg18UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38310937
hg19310937
hg18310937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689470
Samples
Known GenesASPH, CLVS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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