A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3262



Internal ID15201168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2872560..2893089hg38UCSC Ensembl
Outerchr20:2853206..2873735hg19UCSC Ensembl
Outerchr20:2801206..2821735hg18UCSC Ensembl
Outerchr20:2801206..2821735hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg386257
hg196257
hg186257
hg176257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3057
SamplesNA18555
Known GenesPTPRA
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3262
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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