A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2394



Internal ID15200271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4547422..4592423hg38UCSC Ensembl
Outerchr19:4547434..4592435hg19UCSC Ensembl
Outerchr19:4498434..4543435hg18UCSC Ensembl
Outerchr19:4498434..4543435hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3845002
hg1945002
hg1845002
hg1745002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7425
SamplesNA12156
Known GenesSEMA6B
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)nsv2394
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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