A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2618



Internal ID15547181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14556006..14577504hg38UCSC Ensembl
Outerchr2:14696130..14717628hg19UCSC Ensembl
Outerchr2:14613581..14635079hg18UCSC Ensembl
Outerchr2:14646728..14668226hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3821499
hg1921499
hg1821499
hg1721499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4400
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)nsv2618
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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