A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513462



Internal ID15852884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5622754..5622875hg38UCSC Ensembl
Outerchr17:5526074..5526195hg19UCSC Ensembl
Outerchr17:5466798..5466919hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381017
hg191017
hg181017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625866
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)nsv513462
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