A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11211



Internal ID15192682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248405084..248417010hg38UCSC Ensembl
Outerchr1:248568385..248580311hg19UCSC Ensembl
Outerchr1:246635008..246646934hg18UCSC Ensembl
Outerchr1:244894426..244906352hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827942
hg1927942
hg1827942
hg1727942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5343
Supporting Variants
SamplesNA15510
Known GenesOR2T1
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)nssv11211
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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