A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818



Internal ID15552839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:92449533..92495032hg38UCSC Ensembl
Outerchr12:92843309..92888808hg19UCSC Ensembl
Outerchr12:91367440..91412939hg18UCSC Ensembl
Outerchr12:91345777..91391276hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3845500
hg1945500
hg1845500
hg1745500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6525
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)nsv818
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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