A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3854



Internal ID15191895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248552133..248635949hg38UCSC Ensembl
Outerchr1:248715434..248799250hg19UCSC Ensembl
Outerchr1:246782057..246865873hg18UCSC Ensembl
Outerchr1:245041475..245125291hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3883817
hg1983817
hg1883817
hg1783817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5365
Supporting Variants
SamplesNA12878
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
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)nssv3854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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