A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032729



Internal ID19121951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12470001hg38UCSC Ensembl
Innerchr8:12260915..12327510hg19UCSC Ensembl
Innerchr8:12305286..12371881hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3866596
hg1966596
hg1866596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3665775, nssv3665804, nssv3665805, nssv3665794, nssv3665779, nssv3665792, nssv3665776, nssv3760105, nssv3665784, nssv3760112, nssv3665801, nssv3665782, nssv3665783, nssv3665787, nssv3665781, nssv3665778, nssv3665788, nssv3760110, nssv3665797, nssv3665796, nssv3665803, nssv3665800, nssv3665785, nssv3760103, nssv3665780, nssv3665791, nssv3665790, nssv3760107, nssv3665793, nssv3665799, nssv3760102, nssv3760111, nssv3665777, nssv3665802, nssv3665806, nssv3760113, nssv3665786, nssv3760104, nssv3665795, nssv3760109, nssv3760108, nssv3760106, nssv3665798, nssv3665789
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032729
Frequency
Sample Size11257
Observed Gain3
Observed Loss41
Observed Complex0
Frequencyn/a


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