A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3454



Internal ID15548065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:170165739..170180306hg38UCSC Ensembl
Outerchr1:170134880..170149447hg19UCSC Ensembl
Outerchr1:168401504..168416071hg18UCSC Ensembl
Outerchr1:166866538..166881105hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3814568
hg1914568
hg1814568
hg1714568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7785
SamplesNA12156
Known GenesMETTL11B
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)nsv3454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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