A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513560



Internal ID15506296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63101726..63101813hg38UCSC Ensembl
Outerchr20:61733078..61733165hg19UCSC Ensembl
Outerchr20:61203523..61203610hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626812
Samples1
Known GenesHAR1A, HAR1B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513560
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