A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041587



Internal ID18784118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137983555..138200932hg38UCSC Ensembl
Innerchr9:140878007..141091382hg19UCSC Ensembl
Innerchr9:139997828..140211203hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38217378
hg19213376
hg18213376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696518
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)nsv1041587
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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