A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11183



Internal ID15539396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218007786..218042199hg38UCSC Ensembl
Outerchr1:218181128..218215541hg19UCSC Ensembl
Outerchr1:216247751..216282164hg18UCSC Ensembl
Outerchr1:214569523..214603936hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3834414
hg1934414
hg1834414
hg1734414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4587
Supporting Variants
SamplesNA15510
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)nssv11183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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