A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512132



Internal ID15504871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137879110..137884997hg38UCSC Ensembl
Outerchr9:140773562..140779449hg19UCSC Ensembl
Outerchr9:139893383..139899270hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg385888
hg195888
hg185888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624692
Samples1
Known GenesCACNA1B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512132
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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