A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1783



Internal ID15199660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30438129..30483000hg38UCSC Ensembl
Outerchr16:30449450..30494321hg19UCSC Ensembl
Outerchr16:30356951..30401822hg18UCSC Ensembl
Outerchr16:30356951..30401822hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3844872
hg1944872
hg1844872
hg1744872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7243
SamplesNA12156
Known GenesITGAL, SEPHS2
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)nsv1783
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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