A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2858



Internal ID15547421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:103247371..103293050hg38UCSC Ensembl
Outerchr2:103863829..103909508hg19UCSC Ensembl
Outerchr2:103230261..103275940hg18UCSC Ensembl
Outerchr2:103322347..103368026hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3845680
hg1945680
hg1845680
hg1745680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6863
SamplesNA12156
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)nsv2858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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