A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625942



Internal ID15849475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39795423..39796770hg38UCSC Ensembl
Outerchr19:40286063..40287410hg19UCSC Ensembl
Outerchr19:44977903..44979250hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38887
hg19887
hg18887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513528
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)nssv625942
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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