A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1047



Internal ID15545042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122727388..122761202hg38UCSC Ensembl
Outerchr11:122598096..122631910hg19UCSC Ensembl
Outerchr11:122103306..122137120hg18UCSC Ensembl
Outerchr11:122103306..122137120hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg387163
hg197163
hg187163
hg177163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527
Supporting Variants
SamplesNA19240
Known GenesUBASH3B
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)nssv1047
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