A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2614



Internal ID15547177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:12923358..12952968hg38UCSC Ensembl
Outerchr2:13063484..13093094hg19UCSC Ensembl
Outerchr2:12980935..13010545hg18UCSC Ensembl
Outerchr2:13014082..13043692hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg387759
hg197759
hg187759
hg177759
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4399
SamplesNA12878
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)nsv2614
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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