A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512883



Internal ID15852305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64386529..64388912hg38UCSC Ensembl
Outerchr6:65096422..65098805hg19UCSC Ensembl
Outerchr6:65154381..65155526hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625527
Samples1
Known GenesEYS
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512883
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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