A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030779



Internal ID19119998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12520123hg38UCSC Ensembl
Innerchr8:12239823..12377632hg19UCSC Ensembl
Innerchr8:12284194..12422003hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38137810
hg19137810
hg18137810
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3664727, nssv3664728
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)nsv1030779
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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