A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625471



Internal ID15849004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127926201..127926776hg38UCSC Ensembl
Outerchr4:128847356..128847931hg19UCSC Ensembl
Outerchr4:129066806..129067381hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512834
Supporting Variants
Samples1
Known GenesMFSD8
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625471
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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