A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024530



Internal ID18767062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12520766hg38UCSC Ensembl
Innerchr8:12162727..12378275hg19UCSC Ensembl
Innerchr8:12207096..12422646hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38215549
hg19215549
hg18215551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7032n100
Supporting Variantsnssv3682032
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024530
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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