A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658



Internal ID15198522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248341068..248449624hg38UCSC Ensembl
Outerchr1:248504370..248612925hg19UCSC Ensembl
Outerchr1:246570993..246679548hg18UCSC Ensembl
Outerchr1:244830411..244938966hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38108557
hg19108556
hg18108556
hg17108556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5332
Supporting Variants
SamplesNA19240
Known GenesOR14C36, OR2T1, OR2T4, OR2T6
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)nssv658
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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