A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025017



Internal ID19114235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12564499hg38UCSC Ensembl
Innerchr8:12232269..12422008hg19UCSC Ensembl
Innerchr8:12276640..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38189740
hg19189740
hg18189740
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3682699, nssv3682706, nssv3682695, nssv3682704, nssv3682693, nssv3682705, nssv3682707, nssv3682709, nssv3682698, nssv3682701, nssv3682703, nssv3754550, nssv3754552, nssv3754551, nssv3682697, nssv3682702, nssv3682700, nssv3682696, nssv3754553, nssv3682708, nssv3755661, nssv3682694
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025017
Frequency
Sample Size11257
Observed Gain20
Observed Loss2
Observed Complex0
Frequencyn/a


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