A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2299



Internal ID8513844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109610296..109662341hg38UCSC Ensembl
Outerchr1:110152918..110204963hg19UCSC Ensembl
Outerchr1:109954441..110006486hg18UCSC Ensembl
Outerchr1:109864960..109917005hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3852046
hg1952046
hg1852046
hg1752046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4469, nssv7442, nssv5763, nssv10184, nssv2298
SamplesNA18956, NA19129, NA12156, NA12878, NA18555
Known GenesAMPD2, GNAT2, GSTM4
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)nsv2299
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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