A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv979



Internal ID15544931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1074192..1111221hg38UCSC Ensembl
Outerchr11:1074192..1105129hg19UCSC Ensembl
Outerchr11:1064192..1095129hg18UCSC Ensembl
Outerchr11:1064192..1095129hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388602
hg198602
hg188602
hg178602
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7638
Supporting Variants
SamplesNA19240
Known GenesMUC2
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)nssv979
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