A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3026



Internal ID15547594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169770832..169817775hg38UCSC Ensembl
Outerchr2:170627342..170674285hg19UCSC Ensembl
Outerchr2:170335588..170382531hg18UCSC Ensembl
Outerchr2:170452849..170499792hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3846944
hg1946944
hg1846944
hg1746944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6885
SamplesNA12156
Known GenesMETTL5, SSB
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)nsv3026
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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