A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2306



Internal ID15540688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176851089..176895805hg38UCSC Ensembl
Outerchr2:177715817..177760533hg19UCSC Ensembl
Outerchr2:177424063..177468779hg18UCSC Ensembl
Outerchr2:177541324..177586040hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844717
hg1944717
hg1844717
hg1744717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3050
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)nssv2306
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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