A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2566



Internal ID15200443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116871424..116916532hg38UCSC Ensembl
Outerchr1:117414046..117459154hg19UCSC Ensembl
Outerchr1:117215569..117260677hg18UCSC Ensembl
Outerchr1:117126088..117171196hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3845109
hg1945109
hg1845109
hg1745109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7478
SamplesNA12156
Known GenesPTGFRN
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)nsv2566
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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