A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029080



Internal ID19118299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12505127hg38UCSC Ensembl
Innerchr8:12232269..12362636hg19UCSC Ensembl
Innerchr8:12276640..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38130368
hg19130368
hg18130368
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7052n100
Supporting Variantsnssv3682584, nssv3682609, nssv3754528, nssv3682582, nssv3682611, nssv3682580, nssv3682612, nssv3682596, nssv3682598, nssv3682585, nssv3682588, nssv3682593, nssv3682592, nssv3682589, nssv3682599, nssv3682605, nssv3754529, nssv3682594, nssv3754530, nssv3682601, nssv3682603, nssv3682602, nssv3682608, nssv3682604, nssv3682591, nssv3682586, nssv3682610, nssv3682590, nssv3754531, nssv3682581, nssv3682583, nssv3682597, nssv3682587, nssv3754532, nssv3682607, nssv3682606, nssv3682600, nssv3682595
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)nsv1029080
Frequency
Sample Size11257
Observed Gain31
Observed Loss7
Observed Complex0
Frequencyn/a


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