A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3101



Internal ID15547677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:198079364..198124661hg38UCSC Ensembl
Outerchr2:198944088..198989385hg19UCSC Ensembl
Outerchr2:198652333..198697630hg18UCSC Ensembl
Outerchr2:198769594..198814891hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845298
hg1945298
hg1845298
hg1745298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7595
SamplesNA12156
Known GenesPLCL1
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)nsv3101
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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