A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625372



Internal ID15848905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111353445..111353557hg38UCSC Ensembl
Outerchr1:111896067..111896179hg19UCSC Ensembl
Outerchr1:111697590..111697702hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381779
hg191779
hg181779
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512745
Supporting Variants
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)nssv625372
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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