A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3351



Internal ID15201266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33014295..33037533hg38UCSC Ensembl
Outerchr20:31602101..31625339hg19UCSC Ensembl
Outerchr20:31065762..31089000hg18UCSC Ensembl
Outerchr20:31065762..31089000hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3816270
hg1916270
hg1816270
hg1716270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10292
SamplesNA18956
Known GenesBPIFB2, BPIFB6
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)nsv3351
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