A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512992



Internal ID15852414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:93618696..93619923hg38UCSC Ensembl
Outerchr9:96380978..96382205hg19UCSC Ensembl
Outerchr9:95420799..95422026hg18UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38854
hg19854
hg18854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625648
Samples1
Known GenesPHF2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512992
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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