A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031210



Internal ID19120431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12675266hg38UCSC Ensembl
Innerchr8:12232269..12532775hg19UCSC Ensembl
Innerchr8:12276640..12577146hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38300507
hg19300507
hg18300507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7040n100
Supporting Variantsnssv3663537
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031210
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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