A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512923



Internal ID15852345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:131654709..131654951hg38UCSC Ensembl
Outerchr7:131339468..131339710hg19UCSC Ensembl
Outerchr7:130990008..130990250hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381714
hg191714
hg181714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625571
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512923
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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