A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051868



Internal ID19141087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138117657..138200932hg38UCSC Ensembl
Innerchr9:141012109..141091382hg19UCSC Ensembl
Innerchr9:140131930..140211203hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3883276
hg1979274
hg1879274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7730n100
Supporting Variantsnssv3696530, nssv3696529, nssv3696531, nssv3696528
Samples
Known GenesCACNA1B, TUBBP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051868
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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