A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030981



Internal ID18773514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:137782191..138241562hg38UCSC Ensembl
Innerchr8:138794434..139253805hg19UCSC Ensembl
Innerchr8:138863616..139322987hg18UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38459372
hg19459372
hg18459372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3690054
Samples
Known GenesFAM135B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030981
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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