A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv312



Internal ID15547697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47025696..47050846hg38UCSC Ensembl
Outerchr11:47047247..47072397hg19UCSC Ensembl
Outerchr11:47003823..47028973hg18UCSC Ensembl
Outerchr11:47003823..47028973hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3825151
hg1925151
hg1825151
hg1725151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6457, nssv3945
SamplesNA12156, NA12878
Known GenesC11orf49
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)nsv312
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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