A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015451



Internal ID18757985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12513862hg38UCSC Ensembl
Innerchr8:12162727..12371371hg19UCSC Ensembl
Innerchr8:12207096..12415742hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38208645
hg19208645
hg18208647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7032n100
Supporting Variantsnssv3682030, nssv3682031
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, 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)nsv1015451
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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