A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625876



Internal ID15849409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41144096..41144741hg38UCSC Ensembl
Outerchr17:39300348..39300993hg19UCSC Ensembl
Outerchr17:36553874..36554519hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381058
hg191058
hg181058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513472
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)nssv625876
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