A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv506



Internal ID15549831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116298600..116322338hg38UCSC Ensembl
Outerchr11:116169317..116193055hg19UCSC Ensembl
Outerchr11:115674527..115698265hg18UCSC Ensembl
Outerchr11:115674527..115698265hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3812940
hg1912940
hg1812940
hg1712940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9825
SamplesNA18507
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)nsv506
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