A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3046



Internal ID15547616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175457624..175504259hg38UCSC Ensembl
Outerchr2:176322352..176368987hg19UCSC Ensembl
Outerchr2:176030598..176077233hg18UCSC Ensembl
Outerchr2:176147859..176194494hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3846636
hg1946636
hg1846636
hg1746636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2304, nssv1554, nssv5837
SamplesNA18555, NA19240, NA19129
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)nsv3046
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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