A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512768



Internal ID15505504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25398794..25399814hg38UCSC Ensembl
Outerchr2:25621663..25622683hg19UCSC Ensembl
Outerchr2:25475167..25476187hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381104
hg191104
hg181104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625398
Samples1
Known GenesDTNB
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512768
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