A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025926



Internal ID19115143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12532643hg38UCSC Ensembl
Innerchr8:12232269..12390152hg19UCSC Ensembl
Innerchr8:12276640..12434523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157884
hg19157884
hg18157884
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3754538, nssv3682635, nssv3682643, nssv3682636, nssv3682649, nssv3682638, nssv3682650, nssv3682646, nssv3682640, nssv3754540, nssv3754534, nssv3754536, nssv3682645, nssv3682647, nssv3682641, nssv3754535, nssv3682631, nssv3682628, nssv3682644, nssv3682630, nssv3682629, nssv3682634, nssv3682633, nssv3682648, nssv3754537, nssv3682632, nssv3682642, nssv3682651, nssv3682639, nssv3682652, nssv3754539, nssv3682637
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)nsv1025926
Frequency
Sample Size11257
Observed Gain30
Observed Loss2
Observed Complex0
Frequencyn/a


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