A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv678



Internal ID15205037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:39071995..39095594hg38UCSC Ensembl
Outerchr12:39465797..39489396hg19UCSC Ensembl
Outerchr12:37752064..37775663hg18UCSC Ensembl
Outerchr12:37752064..37775663hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3823600
hg1923600
hg1823600
hg1723600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6501
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)nsv678
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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