A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051914



Internal ID18794445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138090003..138200932hg38UCSC Ensembl
Innerchr9:140984455..141091382hg19UCSC Ensembl
Innerchr9:140104276..140211203hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38110930
hg19106928
hg18106928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7729n100
Supporting Variantsnssv3696523
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)nsv1051914
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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