A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513000



Internal ID15852422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134656850..134657166hg38UCSC Ensembl
Outerchr9:137548696..137549012hg19UCSC Ensembl
Outerchr9:136688517..136688833hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625657
Samples1
Known GenesCOL5A1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513000
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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