A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020711



Internal ID19109930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12486092hg38UCSC Ensembl
Innerchr8:12260915..12343601hg19UCSC Ensembl
Innerchr8:12305286..12387972hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3882687
hg1982687
hg1882687
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7068n100
Supporting Variantsnssv3665820, nssv3665812, nssv3665822, nssv3665810, nssv3665814, nssv3665811, nssv3665807, nssv3665809, nssv3665825, nssv3760115, nssv3665817, nssv3665824, nssv3665818, nssv3665819, nssv3665827, nssv3665816, nssv3665826, nssv3665821, nssv3665829, nssv3760121, nssv3760119, nssv3760117, nssv3760116, nssv3760118, nssv3665830, nssv3665815, nssv3665813, nssv3665823, nssv3760114, nssv3760120, nssv3665828, nssv3665808
Samples
Known GenesFAM66A, 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)nsv1020711
Frequency
Sample Size11257
Observed Gain3
Observed Loss29
Observed Complex0
Frequencyn/a


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