A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296



Internal ID15540577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146084982..146123024hg38UCSC Ensembl
Outerchr2:146842550..146880592hg19UCSC Ensembl
Outerchr2:146559020..146597062hg18UCSC Ensembl
Outerchr2:146676282..146714324hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3838043
hg1938043
hg1838043
hg1738043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2960
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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