A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625628



Internal ID15849161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142012557..142012755hg38UCSC Ensembl
Outerchr8:143093918..143094116hg19UCSC Ensembl
Outerchr8:143091825..143092023hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381041
hg191041
hg181041
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512974
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)nssv625628
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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