A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015429



Internal ID19104646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12387671..12470001hg38UCSC Ensembl
Innerchr8:12245180..12327510hg19UCSC Ensembl
Innerchr8:12289551..12371881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3882331
hg1982331
hg1882331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3665716, nssv3760089, nssv3760090, nssv3665715, nssv3665717, nssv3760088, nssv3665718
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015429
Frequency
Sample Size11257
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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