A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030343



Internal ID19119562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12418220hg38UCSC Ensembl
Innerchr8:12232269..12275729hg19UCSC Ensembl
Innerchr8:12276640..12320100hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3843461
hg1943461
hg1843461
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7046n100
Supporting Variantsnssv3682447, nssv3682452, nssv3754478, nssv3754480, nssv3682457, nssv3754476, nssv3682451, nssv3682456, nssv3754474, nssv3754473, nssv3682450, nssv3682448, nssv3682455, nssv3754477, nssv3754479, nssv3682454, nssv3682449, nssv3754475, nssv3754481, nssv3682453
Samples
Known GenesDEFB109P1, FAM66A, FAM90A25P, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030343
Frequency
Sample Size11257
Observed Gain14
Observed Loss6
Observed Complex0
Frequencyn/a


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