A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3430



Internal ID15548039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59045760..59079863hg38UCSC Ensembl
Outerchr20:57620815..57654918hg19UCSC Ensembl
Outerchr20:57054210..57088313hg18UCSC Ensembl
Outerchr20:57054210..57088313hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg385641
hg195641
hg185641
hg175641
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4546
SamplesNA12878
Known Genes
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)nsv3430
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