A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512831



Internal ID15505567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99588624..99589663hg38UCSC Ensembl
Outerchr4:100509781..100510820hg19UCSC Ensembl
Outerchr4:100728804..100729843hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381000
hg191000
hg181000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625468
Samples1
Known GenesMTTP
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512831
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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