A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2284



Internal ID15540446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99805364..99850096hg38UCSC Ensembl
Outerchr2:100421826..100466558hg19UCSC Ensembl
Outerchr2:99788258..99832990hg18UCSC Ensembl
Outerchr2:99880344..99925076hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3844733
hg1944733
hg1844733
hg1744733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2845
Supporting Variants
SamplesNA18555
Known GenesAFF3
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)nssv2284
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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