A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512913



Internal ID15852335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75906250..75907040hg38UCSC Ensembl
Outerchr7:75535568..75536358hg19UCSC Ensembl
Outerchr7:75373504..75374294hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381085
hg191085
hg181085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625560
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)nsv512913
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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