A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018713



Internal ID19107930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12496209hg38UCSC Ensembl
Innerchr8:12232269..12353718hg19UCSC Ensembl
Innerchr8:12276640..12398089hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121450
hg19121450
hg18121450
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3682572, nssv3754523, nssv3682570, nssv3754522, nssv3682571, nssv3682573, nssv3754524, nssv3754521, nssv3682574
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, 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)nsv1018713
Frequency
Sample Size11257
Observed Gain7
Observed Loss2
Observed Complex0
Frequencyn/a


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