A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7730n100



Internal ID22793817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138106058..138200932hg38UCSC Ensembl
chr9:141000510..141091382hg19UCSC Ensembl
chr9:140120331..140211203hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3894875
hg1990873
hg1890873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049582, nsv1051868, nsv1036681, nsv1044994, nsv1048389
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)dgv7730n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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