A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2856



Internal ID15547419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102365485..102401806hg38UCSC Ensembl
Outerchr2:102981945..103018266hg19UCSC Ensembl
Outerchr2:102348377..102384698hg18UCSC Ensembl
Outerchr2:102440463..102476784hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3836322
hg1936322
hg1836322
hg1736322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7531
SamplesNA12156
Known GenesIL18R1
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)nsv2856
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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