A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029493



Internal ID19118712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376119..12418220hg38UCSC Ensembl
Innerchr8:12233628..12275729hg19UCSC Ensembl
Innerchr8:12277999..12320100hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3842102
hg1942102
hg1842102
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7046n100
Supporting Variantsnssv3755763, nssv3663723, nssv3663725, nssv3663724
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)nsv1029493
Frequency
Sample Size11257
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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