A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3080



Internal ID15200968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:189796928..189841789hg38UCSC Ensembl
Outerchr2:190661654..190706515hg19UCSC Ensembl
Outerchr2:190369899..190414760hg18UCSC Ensembl
Outerchr2:190487160..190532021hg17UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3844862
hg1944862
hg1844862
hg1744862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7592
SamplesNA12156
Known GenesPMS1
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)nsv3080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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