A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024730



Internal ID19113947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12486092hg38UCSC Ensembl
Innerchr8:12232269..12343601hg19UCSC Ensembl
Innerchr8:12276640..12387972hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38111333
hg19111333
hg18111333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7050n100
Supporting Variantsnssv3682569, nssv3682568, nssv3682564, nssv3682566, nssv3754519, nssv3682567, nssv3682565, nssv3754520, nssv3754518
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)nsv1024730
Frequency
Sample Size11257
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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