A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625350



Internal ID15502197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22754795..22755025hg38UCSC Ensembl
Outerchr1:23081288..23081518hg19UCSC Ensembl
Outerchr1:22953875..22954105hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38926
hg19926
hg18926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512725
Supporting Variants
Samples1
Known GenesEPHB2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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