A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv693



Internal ID15551888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46856355..46886736hg38UCSC Ensembl
Outerchr12:47250138..47280519hg19UCSC Ensembl
Outerchr12:45536405..45566786hg18UCSC Ensembl
Outerchr12:45536405..45566786hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389128
hg199128
hg189128
hg179128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10862
SamplesNA18956
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)nsv693
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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