A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512754



Internal ID15852176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198398301..198398524hg38UCSC Ensembl
Outerchr1:198367431..198367654hg19UCSC Ensembl
Outerchr1:196634054..196634277hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38949
hg19949
hg18949
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625383
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)nsv512754
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer