A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512891



Internal ID15505627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117924894..117925026hg38UCSC Ensembl
Outerchr6:118246057..118246189hg19UCSC Ensembl
Outerchr6:118352750..118352882hg18UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38880
hg19880
hg18880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625536
Samples1
Known GenesSLC35F1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512891
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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