A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026245



Internal ID19115462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12520766hg38UCSC Ensembl
Innerchr8:12232269..12378275hg19UCSC Ensembl
Innerchr8:12276640..12422646hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38146007
hg19146007
hg18146007
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3682625, nssv3682624, nssv3682623, nssv3682622, nssv3682626, nssv3682627
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)nsv1026245
Frequency
Sample Size11257
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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